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  2. HEXA - hexosaminidase subunit alpha Gene

HEXA - hexosaminidase subunit alpha Gene

中文名称:氨基己糖苷酶亚基α

种属: Homo sapiens

同用名: TSD

基因 ID: 3073 | 基因类型: protein coding

关于 HEXA

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:72,340,924-72,376,014 (from NCBI)

This gene has 49 transcripts (splice variants), 188 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in placenta (RPKM 36.4), thyroid (RPKM 34.8) and 25 other tissues.

功能概要

该基因编码糖基水解酶 20 蛋白家族的成员。编码的前原蛋白经过蛋白水解处理,生成溶酶体酶 β-己糖胺酶的 α 亚基。这种酶与辅助因子 GM2 激活蛋白一起催化神经节苷脂 GM2 和其他含有末端 N-乙酰己糖胺的分子的降解。该基因的突变导致 GM2 神经节苷脂在神经元中积累,这是神经退行性疾病的根本原因,称为 GM2 神经节苷脂增多症,包括 Tay-Sachs 病 (GM2 神经节苷脂贮积症 I 型) 。选择性剪接会产生多种转录物变体,其中至少一种会编码经过蛋白水解处理的前原蛋白。[RefSeq 提供,2016 年 1 月]

This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal Enzyme beta-hexosaminidase. This Enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

HEXA 基因产物(2)

mRNA Protein Name
NM_000520.6 NP_000511.2 beta-hexosaminidase subunit alpha isoform 2 preproprotein
NM_001318825.2 NP_001305754.1 beta-hexosaminidase subunit alpha isoform 1 precursor

HEXA 蛋白结构

Glycohydro_20b2

Glycohydro_20b2: beta-acetyl hexosaminidase like (23 - 145)

Glyco_hydro_20

Glyco_hydro_20: Glycosyl hydrolase family 20, catalytic domain (167 - 487)

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  • 529 a.a.
蛋白主名 其他名称

beta-hexosaminidase subunit alpha

N-acetyl-beta-glucosaminidase subunit alpha

重组 HEXA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73099 HEXA/Hexosaminidase A Protein, Human (sf9, His) P06865 (M1-T529) ≥95%

关联疾病

疾病名称 别名
Tay-Sachs Disease

Hexosaminidase A Deficiency

TSD

Hexa Deficiency

Gm2 Gangliosidosis, Type 1

Hexosaminidase Alpha-Subunit Deficiency

Gm2-Gangliosidosis, Several Forms

Gm2-Gangliosidosis, B, B1, Ab Variant

B Variant Gm2 Gangliosidosis

Sphingolipidosis, Tay-Sachs

Gm2-Gangliosidosis, Type I

B Variant Gm2-Gangliosidosis

Hex A Pseudodeficiency

Hexa Disorders

Beta-Hexosaminidase A Deficiency

Gm2 Gangliosidosis, Type I

Gangliosidosis Gm2 , Type 1

Gm2 Gangliosidosis, B, B1 Variant

Gm2-Gangliosidosis 1

GM2G1

Gm2-Gangliosidosis B Variant

Tay-Sachs Disease Pseudo-Ab Variant

Tay-Sachs Disease Variant B1

Gangliosidoses, Gm2

Tay-Sachs Disease, B1 Variant

Gm2 Gangliosidosis, B1 Variant

Hexosaminidase A Deficiency, B1 Variant

Gm2-Gangliosidosis, Variant B1

Tay-Sachs Disease, B Variant, Juvenile Form

Gm2 Gangliosidosis, B Variant, Juvenile Form

Hexosaminidase A Deficiency, Juvenile Form

Tay-Sachs Disease, B Variant, Infantile Form

Gm2 Gangliosidosis, B Variant, Infantile Form

Hexosaminidase A Deficiency, Infantile Form

Tay-Sachs Disease, B Variant, Adult Form

Gm2 Gangliosidosis, B Variant, Adult Form

Hexosaminidase A Deficiency, Adult Form

Gm2-Gangliosidosis, Ab Variant

Hexosaminidase Activator Deficiency

Tay-Sachs Disease, Ab Variant

Gm2 Gangliosidosis, Ab Variant

Gm2 Activator Deficiency

Tay-Sachs Disease, Variant Ab

Tay-Sachs Disease Ab Variant

Ab Variant Gm2-Gangliosidosis

Tay-Sachs Variant Ab

Ab Variant

Activator Deficiency/Gm2 Gangliosidosis

Activator-Deficient Tay-Sachs Disease

Gm2 Activator Deficiency Disease

Gm2 Gangliosidosis, Type Ab

Gm2-Gangliosidosis Ab

GM2GAB

Gm2-Gangliosidosis Ab Variant

Gangliosidosis Gm2 Ab Variant

Gm2-Gangliosidosis, Variant Ab

Gm2 Gangliosidosis

Gangliosidosis Gm2

Gangliosidoses, Gm2

Gangliosidosis

Gangliosidoses

Sandhoff Disease

Total Hexosaminidase Deficiency

Hexosaminidases A And B Deficiency

Sandhoff Disease, Infantile, Juvenile, And Adult Forms

Beta-Hexosaminidase-Beta-Subunit Deficiency

Gm2 Gangliosidosis, Type 2

Hexosaminidase A And B Deficiency Disease

Sandhoff-Jatzkewitz-Pilz Disease

Gm2 Gangliosidosis, Type Ii

Sandhoff Disease, Infantile Form

Sandhoff Disease, Adult Form

Sandhoff Disease, Juvenile Form

Gm2-Gangliosidosis, Type Ii

Sandhoff Jatzkewitz Disease

Type Ii Gm2 Gangliosidosis

Gm2 Gangliosidosis, 0 Variant

Gm2 Gangliosidosis 0 Variant

Hexosaminidases A And B Deficiency, Infantile Form

Infantile Gm2 Gangliosidosis 0 Variant

Adult Gm2 Gangliosidosis 0 Variant

Hexosaminidases A And B Deficiency, Adult Form

Hexosaminidases A And B Deficiency, Juvenile Form

Juvenile Gm2 Gangliosidosis 0 Variant

Gm2-Gangliosidosis 2

GM2G2

Hexosaminidase A And B Deficiency

Sd

Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

Leukodystrophy

Leukodystrophies

Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

Gm1 Gangliosidosis

Beta-Galactosidase Deficiency

Gangliosidosis Gm1

Deficiency Of Beta-Galactosidase

Beta Galactosidase 1 Deficiency

Beta-Galactosidosis

Glb 1 Deficiency

Beta-Galactosidase-1 Deficiency

Beta-Galactosidase-1 Deficiency

Glb1 Deficiency

Landing Disease

Gangliosidosis, Gm1

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

Spinal Muscular Atrophy

Sma

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]

Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Mucolipidoses
Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis

Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders

MPSPS

Mucopolysaccharidoses

Mps

Mucopolysaccharidosis-Like Plus Disease

Disorders Of Glycosaminoglycan Metabolism

Metachromatic Leukodystrophy

Arylsulfatase A Deficiency

MLD

Arsa Deficiency

Sulfatide Lipidosis

Metachromatic Leukoencephalopathy

Cerebral Sclerosis, Diffuse, Metachromatic Form

Cerebroside Sulfatase Deficiency

Leukodystrophy, Metachromatic

Pseudoarylsulfatase A Deficiency

Leukodystrophy Metachromatic

Sulfatidosis

Metachromatic Leukodystrophy, Late Infantile

Metachromatic Leukodystrophy Variant

Deficiency Of Cerebroside-Sulfatase

Scholz Cerebral Sclerosis

Sulfatide Lipoidosis

Cerebral Sclerosis Diffuse Metachromatic Form

Arylsulfatase A Deficiency Disease

Cerebroside Sulphatase Deficiency Disease

Greenfield Disease

Metachromatic Leukodystrophy, Adult

Metachromatic Leukodystrophy, Juvenile

Leukodystrophy Metachromatic Adult

Leukodystrophy Metachromatic Juvenile

Leukodystrophy Metachromatic Late Infantile

Metachromatic Leukodystrophy, Adult Type

Metachromatic Leukodystrophy, Juvenile Type

Metachromatic Leukodystrophy, Infant

Greenfield'S Disease

Chronic Inflammatory Demyelinating Polyneuritis

Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Animal Phobia

Zoophobia

Fear Of Animals

Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Sphingolipidosis

Sphingolipidoses

Spinocerebellar Ataxia 21

Spinocerebellar Ataxia Type 21

SCA21

Ataxia, Spinocerebellar, Type 21

Toxic Pneumonitis

Acute Chemical Fume Pulmonary Edema

Acute Chemical Pulmonary Edema

Acute Pulmonary Edema Due To Fumes And/Or Vapors

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Spinocerebellar Ataxia, Autosomal Recessive 4

SCAR4

Scasi

Spinocerebellar Ataxia With Saccadic Intrusions

Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome

Spinocerebellar Ataxia 24

Autosomal Recessive Spinocerebellar Ataxia 4

Sca24

Spinocerebellar Ataxia 24, Formerly

Sca24, Formerly

Spinocerebellar Ataxia Autosomal Recessive 4

Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

Friedreich Ataxia

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Asmd, Neurovisceral Type

Infantile Neurovisceral Acid Sphingomyelinase Deficiency

Infantile Neurovisceral Asmd

Npd-A

Niemann-Pick Disease A

NPDA

Classical Niemann-Pick Disease

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Niemann-Pick Disease Neuronopathic Type

Niemann-Pick Disease Type I

Npa

Niemann-Pick Diseases

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

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

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus HEXA MGD MGI:96073
Rattus norvegicus HEXA RGD RGD:2792
Felis catus HEXA VGNC VGNC:104400