Gene: PCCA

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 13

Location in Chromosome : 13q32.3

Description of this Gene: propionyl-CoA carboxylase subunit alpha

Type of Gene: protein-coding

Gene: PCCA-DT

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs781030239 in PCCA;PCCA-DT gene and Propionic acidemia PMID 27489777 2016 Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

PMID 11592820 2001 Structure of the PCCA gene and distribution of mutations causing propionic acidemia.

PMID 27227689 2016 Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.