1. Gene
  2. CHAT - choline O-acetyltransferase Gene

CHAT - choline O-acetyltransferase Gene

中文名称:胆碱 O-乙酰转移酶

种属: Homo sapiens


基因 ID: 1103 | 基因类型: protein coding


Cytogenetic location: 10q11.23 Genomic coordinates (GRCh38): 10:49,609,095-49,667,942 (from NCBI)

This gene has 12 transcripts (splice variants), 254 orthologues, 6 paralogues and is associated with 2 phenotypes. Biased expression in placenta (RPKM 2.7), small intestine (RPKM 0.2) and 1 other tissue.


该基因编码一种催化神经递质乙酰胆碱生物合成的酶。这种基因产物是胆碱能神经元的特征,这些神经元的变化可以解释阿尔茨海默病的一些症状。该基因的多态性与阿尔茨海默病和轻度认知障碍有关。该基因的突变与与偶发性呼吸暂停相关的先天性肌无力综合征有关。已发现该基因编码不同同种型的多个转录变体,并且已证明其中一些变体编码不止一种同种型。[RefSeq 提供,2010 年 5 月]

This gene encodes an Enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]

CHAT 基因产物(7)

mRNA Protein Name
NM_001142929.2 NP_001136401.2 choline O-acetyltransferase isoform 1
NM_001142933.2 NP_001136405.2 choline O-acetyltransferase isoform 3
NM_001142934.2 NP_001136406.2 choline O-acetyltransferase isoform 1
NM_020549.5 NP_065574.4 choline O-acetyltransferase isoform 2
NM_020984.4 NP_066264.4 choline O-acetyltransferase isoform 1
NM_020985.4 NP_066265.4 choline O-acetyltransferase isoform 1
NM_020986.4 NP_066266.4 choline O-acetyltransferase isoform 1

CHAT 蛋白结构


Carn_acyltransf: Choline/Carnitine o-acyltransferase (131 - 720)

  • 0
  • 200
  • 400
  • 600
  • 748 a.a.
蛋白主名 其他名称

choline O-acetyltransferase

acetyl CoA:choline O-acetyltransferase


疾病名称 别名
Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia



Congenital Myasthenic Syndrome 6

Familial Infantile Myasthenia Gravis 2


Myasthenic Syndrome, Congenital, Associated With Episodic Apnea

Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea

Congenital Myasthenic Syndrome Type Ia2, Formerly

Cms1a2, Formerly

Cms Ia2, Formerly

Myasthenia, Familial Infantile, Formerly

Fim, Formerly

Myasthenia Gravis, Familial Infantile, 2, Formerly

Fimg2, Formerly

Cms Ia2


Congenital Myasthenic Syndrome 6, Presynaptic

Congenital Myasthenic Syndrome Type Ia2

Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea




Cms Ia

Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea

Congenital Myasthenic Syndrome Type 1a

Congenital Myasthenic Syndrome Type Ia

Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Gastroesophageal Reflux

Gastroesophageal Reflux Disease



Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease

Aspiration Pneumonia

Pneumonia, Aspiration

Pneumonia Aspiration

Aspiration Pneumonitis

Apnea, Central Sleep
Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic

Febrile Seizures

Febrile Seizure

Febrile Convulsions

Seizures Febrile

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Mild Cognitive Impairment
Myasthenic Syndrome, Congenital, 21, Presynaptic

Congenital Myasthenic Syndrome 21


Congenital Myasthenic Syndrome 21, Presynaptic

Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes


Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Congenital Myasthenic Syndrome Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c


Cms Id


Congenital Myasthenic Syndrome Type Id


Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type Id

Cms1d, Formerly

Cms Id, Formerly

Myasthenia, Familial Infantile, 1, Formerly

Fim1, Formerly

Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency

Familial Infantile Myasthenia 1



Cms Ie

Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome Type 1d

Congenital Myasthenic Syndrome Type 1e

Congenital Myasthenic Syndrome Type Ie

Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency

Myasthenia, Familial Infantile, 1

Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Ie

Amnestic Disorder


Amnestic Syndrome

Korsakoff'S Psychosis Or Syndrome

Amnesic Syndrome

Amnestic Disorder In Conditions Classified Elsewhere

Korsakoff Psychosis Or Syndrome, Nonalcoholic

Nonalcoholic Organic Amnesic Syndrome

Organic Amnesic Syndrome

Vascular Dementia

Dementia, Vascular

Multi Infarct Dementia

Multifocal Dementia

Dementia Vascular

Vascular Dementia, Susceptibility To

Dementia, Multi-Infarct

Multi-Infarct Dementia

Senile Plaque Formation
Sudden Infant Death Syndrome


Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant



Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Ocular Dominance
Rett Syndrome

Atypical Rett Syndrome


Rett Disorder


Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant


Dilatation Of Colon

Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain




Picks Disease



Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Supranuclear Palsy, Progressive, 1

Progressive Supranuclear Palsy

Steele-Richardson-Olszewski Syndrome

Supranuclear Palsy, Progressive

Progressive Supranuclear Ophthalmoplegia



Familial Progressive Supranuclear Palsy

Richardson'S Syndrome

Psp Syndrome

Progressive Supranuclear Palsy 1

Supranuclear Palsy Progressive

Ophthalmoplegia, Supranuclear, Progressive

Steele-Richardson-Olszewksi Syndrome

Thiamine Deficiency Disease
Wernicke-Korsakoff Syndrome

Korsakoff Syndrome

Transketolase Defect

Korsakoff'S Syndrome

Alcohol-Induced Encephalopathy

Korsakoff'S Psychosis

Korsakov Psychosis

Korsakov'S Psychosis

Alcohol Induced Encephalopathy

Korsakoff Disease

Korsakoff Psychosis

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia


Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial


Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia


Primary Senile Degenerative Dementia


Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1


Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy



Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Riboflavin Deficiency


Maternal Riboflavin Deficiency


Vitamin B2 Deficiency


Sigmoid Disease

Sigmoid Diseases

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis


Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease


Amyotrophic Lateral Sclerosis, Susceptibility To


Lou Gehrig'S Disease


Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis



Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Multiple System Atrophy 1

Multiple System Atrophy

Shy-Drager Syndrome



Multiple System Atrophy 1, Susceptibility To

Sporadic Olivopontocerebellar Atrophy

Multisystem Atrophy

Msa1, Susceptibility To

Multiple System Atrophy, Susceptibility To


Progressive Autonomic Failure With Multiple System Atrophy


Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea


Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Capgras Syndrome

Capgras Delusion Theory

Cataract 38



Autosomal Recessive Congenital Cataract 5

Cataract, Autosomal Recessive Congenital 5

Cataract 38, Autosomal Recessive

Cataract, Type 38

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease



Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease


Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Myasthenic Syndrome, Congenital, 5

Endplate Acetylcholinesterase Deficiency

Congenital Myasthenic Syndrome 5



Engel Congenital Myasthenic Syndrome

Myasthenic Syndrome, Congenital, Engel Type

Cms Ic

Congenital Myasthenic Syndrome Type Ic

Congenital Myasthenic Syndrome Type Ic, Formerly

Cms1c, Formerly

Cms Ic, Formerly

Congenital Myasthenic Syndrome Engel Type

End Plate Acetylcholinesterase Deficiency

Synaptic Congenital Myasthenic Syndromes



Congenital Myasthenic Syndrome Type 1c

End-Plate Acetylcholinesterase Deficiency

Myasthenic Syndrome, Congenital, Type 5

Spinal Muscular Atrophy


5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Central Nervous System Disease

Cns Disorder


Cns Diseases

Central Nervous System Diseases



Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To


Dementia Praecox

Schizophrenia 1

Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies


Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type


Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]



Neuroblastoma, Susceptibility To


Central Neuroblastoma

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome



X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome


Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity

Ewing Sarcoma


Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma


Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma


Peripheral Pnet

Extraskeletal Ewing Sarcoma


Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor


Ewing Sarcoma Family Of Tumors



Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Stroke, Ischemic

Cerebral Infarction


Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction


Ischemic Cerebrovascular Accident

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon


Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against



Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic


Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon


Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma