PCCA, Official Symbol PCCAprovided by HGNC Official Full Name propionyl-CoA carboxylase subunit alphaprovided by HGNC Primary source HGNC:HGNC:8653 See related Ensembl:ENSG00000175198 MIM:232000; AllianceGenome:HGNC:8653 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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.[provided by RefSeq, May 2010] Expression Broad expression in kidney (RPKM 11.9), liver (RPKM 5.1) and 23 other tissues See more Orthologs mouse all