Carboxypeptidase A6 (CPA6) Antibody – Rabbit Polyclonal

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]

CPA6: May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II. A chromosomal aberration involving CPA6 was found in a patient with Duane retraction syndrome. Translocation t(6;8)(q26;q13). Defects in CPA6 are the cause of epilepsy, familial temporal lobe, type 5 (ETL5). ETL5 is a focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. Defects in CPA6 are the cause of familial febrile convulsions type 11 (FEB11). FEB11 consists of seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. Belongs to the peptidase M14 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; EC 3.4.17.1; Protease; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 8q13.2

Cellular Component: extracellular space; proteinaceous extracellular matrix

Molecular Function: metallocarboxypeptidase activity; zinc ion binding

Biological Process: proteolysis

Disease: Epilepsy, Familial Temporal Lobe, 5; Febrile Seizures, Familial, 11