CPA6 - carboxypeptidase A6 Gene

Homo sapiens

Also known as CPAH; ETL5; FEB11

Gene ID: 57094 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

CPA6 Protein Structure

Propep_M14

Peptidase_M14

0
100
200
300
400
437 a.a.

Protein Preferred Names

Protein Names

carboxypeptidase A6

carboxypeptidase B

Related Diseases

Diseases

Alias

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]

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03085	CPA6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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