CPE Chromosome 4

Carboxypeptidase E
6 variants 6 Health Risk

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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
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
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