Gene Symbol | CPA6 |
Entrez Gene ID | 57094 |
Full Name | carboxypeptidase A6 |
Synonyms | CPAH,ETL5,FEB11 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Epilepsy, familial temporal lobe, 5, 614417 (3); Febrile seizures, familial, 11, 614418 (3) |