CPE carboxypeptidase E
Gene ID: 1363, updated on 17-Jun-2024Gene type: protein coding
Also known as: CPH; BDVS; IDDHH
- See all available tests in GTR for this gene
- Go to complete Gene record for CPE
- Go to Variation Viewer for CPE variants
Summary
This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. This protein may also function independently of its peptidase activity, as a neurotrophic factor that promotes neuronal survival, and as a sorting receptor that binds to regulated secretory pathway proteins, including prohormones. Mutations in this gene are implicated in type 2 diabetes. [provided by RefSeq, Nov 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| BDV syndrome | See labs |
Genomic context
- Location:
- 4q32.3
- Sequence:
- Chromosome: 4; NC_000004.12 (165379008..165498547)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CPE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- 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
- Variation ViewerRelated Variants
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