CPZ Chromosome 4
Carboxypeptidase Z
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What This Gene Does
This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
M14 carboxypeptidases
Locus Type
gene with protein product
Location
4p16.1
Ensembl
ENSG00000109625
Associated Conditions (1)
Short stature
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140673461 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375633720 | Health Risk | Likely pathogenic | Short stature, Short stature |