CPE Chromosome 4
Carboxypeptidase E
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What This Gene Does
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]
Gene Info
Gene Group
"M14 carboxypeptidases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
4q32.3
Ensembl
ENSG00000109472
Associated Conditions (3)
BDV syndrome
Blakemore-Durmaz-Vasileiou (BDV) syndrome
Inborn genetic diseases
Key Variants
RS1298858763
Pathogenic
BDV syndrome, BDV syndrome
Health Risk
RS1317332155
Pathogenic
Blakemore-Durmaz-Vasileiou (BDV) syndrome, BDV syndrome, Blakemore-Durmaz-Vasileiou (BDV) syndrome
Health Risk
RS1579283609
Pathogenic
BDV syndrome, BDV syndrome
Health Risk
RS2478210424
Pathogenic
Health Risk
RS2478233648
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS768504422
Pathogenic
BDV syndrome, BDV syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1298858763 | Health Risk | Pathogenic | BDV syndrome, BDV syndrome |
| RS1317332155 | Health Risk | Pathogenic | Blakemore-Durmaz-Vasileiou (BDV) syndrome, BDV syndrome, Blakemore-Durmaz-Vasileiou (BDV) syndrome |
| RS1579283609 | Health Risk | Pathogenic | BDV syndrome, BDV syndrome |
| RS2478210424 | Health Risk | Pathogenic | — |
| RS2478233648 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS768504422 | Health Risk | Pathogenic | BDV syndrome, BDV syndrome |