CPA6 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CPA6 wild-type allele is located in the vicinity of 8q13.2 and is approximately 325 kb in length. This allele, which encodes carboxypeptidase A6 protein, is involved in proteolysis of neuropeptides and peptide hormones. Mutation of the gene is associated with familial termporal lobe epilepsy 5 and familial febrile seizures 11. A translocation t(6;8)(q26;q13) involving this gene may transcribe the active form of the enzyme and may be associated with Duane retraction syndrome.

**Synonyms:** - CPAH - Carboxypeptidase A6 wt Allele - ETL5 - FEB11