CPA6 - carboxypeptidase A6 Gene

Also Known as CPAH; ETL5; FEB11

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57094

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

Propep_M14: Carboxypeptidase activation peptide (44 - 118)

Peptidase_M14

Peptidase_M14: Zinc carboxypeptidase (145 - 423)

  • 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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03085 CPA6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS03454 CYP2A6 Human Pre-designed siRNA Set A Pre-designed Set / 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