CPA6 wt Allele

Preferred Label : CPA6 wt Allele;

NCIt synonyms : CPAH; Carboxypeptidase A6 wt Allele; ETL5; FEB11;

NCIt 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.;

NCI Metathesaurus CUI : CL1778226;

GenBank Accession Number : AF221594;

Details

Origin ID

C185842;

UMLS CUI

C5575356;

Automatic exact mappings (from CISMeF team)
- Carboxypeptidase a6 [OMIM gene]
- Epilepsy, familial temporal lobe, 5 [OMIM Phenotype]
- Febrile seizures, familial, 11 [OMIM Phenotype]
- carboxypeptidase A6 [ORDO Gene]
- familial febrile seizures 11 [DO Concept]
- familial temporal lobe epilepsy 5 [DO Concept]
OMIM relation
- Carboxypeptidase a6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Peptide Metabolism [NCIt concept]
- Protein Cleavage [NCIt concept]
- Protein Degradation Process [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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