CPA6 carboxypeptidase A6
Gene ID: 57094, updated on 5-Mar-2024Gene type: protein coding
Also known as: CPAH; ETL5; FEB11
- See all available tests in GTR for this gene
- Go to complete Gene record for CPA6
- Go to Variation Viewer for CPA6 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. GeneReviews: Not available | |
Familial temporal lobe epilepsy 5 | See labs |
Febrile seizures, familial, 11 | See labs |
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes. GeneReviews: Not available | |
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. GeneReviews: Not available |
Copy number response
Description |
---|
Copy number response Haploinsufficency No evidence available (Last evaluated 2019-09-04) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2019-09-04) ClinGen Genome Curation Page |
Genomic context
- Location:
- 8q13.2
- Sequence:
- Chromosome: 8; NC_000008.11 (67422038..67746360, complement)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CPA6 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CPA6 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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