2. Gene
  3. CPA6 - carboxypeptidase A6 Gene

CPA6 - carboxypeptidase A6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：羧肽酶 A6

种属: Homo sapiens

同用名: CPAH; ETL5; FEB11

基因 ID: 57094 | 基因类型: protein coding

关于 CPA6

Cytogenetic location: 8q13.2 Genomic coordinates (GRCh38): 8:67,422,038-67,746,360 (from NCBI)

This gene has 6 transcripts (splice variants), 226 orthologues, 8 paralogues and is associated with 4 phenotypes. Biased expression in prostate (RPKM 1.2), colon (RPKM 0.8) and 7 other tissues.

功能概要

该基因编码金属羧肽酶肽酶 M14 家族的成员。编码的前原蛋白经过蛋白水解处理以产生成熟酶，该酶催化释放大的疏水性 C 末端氨基酸。这种酶的功能范围从食物的消化到神经内分泌肽的选择性生物合成。该基因的突变可能与癫痫和热性惊厥有关，并且涉及该基因的易位 t (6;8) (q26;q13) 与 Duane 退缩综合征有关。[RefSeq 提供，2016 年 5 月]

The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal Amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]

CPA6 基因产物(1)

mRNA Protein Name
NM_020361.5 NP_065094.3 carboxypeptidase A6 preproprotein

CPA6 蛋白结构

Propep_M14

Propep_M14: Carboxypeptidase activation peptide (44 - 118)

Peptidase_M14

Peptidase_M14: Zinc carboxypeptidase (145 - 423)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 437 a.a.
蛋白主名 其他名称

carboxypeptidase A6

carboxypeptidase B

关联疾病

疾病名称 别名
Epilepsy, Familial Temporal Lobe, 5

Familial Temporal Lobe Epilepsy 5

ETL5

Epilepsy, Temporal Lobe, Familial, Type 5
Febrile Seizures, Familial, 11

FEB11

Familial Febrile Seizures 11

Familial Febrile Convulsions 11

Convulsions, Familial Febrile, 11

Familial Mesial Temporal Lobe Epilepsy With Febrile Seizures
Benign Familial Mesial Temporal Lobe Epilepsy

Benign Fmtle
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs
Febrile Seizures

Febrile Seizure

Febrile Convulsions

Seizures Febrile
Abnormal Retinal Correspondence
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed
Acute Pancreatitis

Pancreatitis

Pancreatitis, Acute Necrotizing

Pancreatitis Nos

Acute Pancreas Inflammation
Epilepsy, Familial Temporal Lobe, 6

ETL6

Familial Temporal Lobe Epilepsy 6
Binocular Vision Disease

Simultaneous Visual Perception Without Fusion
Epilepsy, Familial Temporal Lobe, 7

Familial Temporal Lobe Epilepsy 7

ETL7

Epilepsy, Temporal Lobe, Familial, Type 7
Verbal Auditory Agnosia
Epilepsy, Familial Temporal Lobe, 4

ETL4

Epilepsy, Occipitotemporal Lobe, And Migraine With Aura

Epolm

Familial Temporal Lobe Epilepsy 4

Occipitotemporal Lobe Epilepsy And Migraine With Aura
Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03085 CPA6 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS03454 CYP2A6 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CPA6 MGD MGI:3045348
Macaca mulatta CPA6 VGNC VGNC:71429
Bos taurus CPA6 VGNC VGNC:53856
Felis catus CPA6 VGNC VGNC:61116
Rattus norvegicus CPA6 RGD RGD:1311764
Canis familiaris CPA6 VGNC VGNC:39547
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