Relevance to Autism

A homozygous PCCA missense variant (p.Gly117Asp) was identified in a female Saudi patient with propionic acidemia and a DSM-IV diagnosis of autistic disorder (Al-Owain et al., 2013). Two additional patients with propionic acidemia caused by homozygous PCCA variants were reported to exhibit autistic features in Witters et al., 2016. Administration of propionic acid to rats have been shown to induce autistic-like behaviors in multiple studies (MacFabe et al., 2007; MacFabe et al., 2011; Foley et al., 2014; Foley et al., 2014; Shultz et al., 2015).

Molecular Function

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 (OMIM 606054).

External Links

References