PCCA

Chr 13

propionyl-CoA carboxylase subunit alpha

NCBI Gene: 5095 ENSG00000175198 UniProt: P05165

The protein is the alpha subunit of propionyl-CoA carboxylase, a mitochondrial enzyme that contains the biotin-binding region and is essential for catabolism of certain amino acids and odd-chain fatty acids. Mutations cause propionicacidemia, an autosomal recessive disorder characterized by accumulation of toxic metabolites leading to metabolic acidosis, developmental delay, and multisystem complications. The pathogenic mechanism involves enzyme deficiency resulting from loss of normal protein function.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPropionic acidemia type I

Clinical highlights

Gene-disease validity (ClinGen)

propionic acidemia · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

168

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.91

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)