Gene: CPA6

Alternate names for this Gene: CPAH|ETL5|FEB11

Gene 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q13.2

Description of this Gene: carboxypeptidase A6

Type of Gene: protein-coding

Gene: LOC102724708

Alternate names for this Gene:

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rs61738009 in CPA6;LOC102724708 gene and EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 PMID 21922598 2012 Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.

rs61738009 in CPA6;LOC102724708 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.