PCCA Back

propionyl Coenzyme A carboxylase, alpha polypeptide

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NCBI Description of PCCA

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.

Community Annotation of PCCA Add / Edit PCCA: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PCCA is highly significantly mutated in
(none)
PCCA is significantly mutated in
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PCCA is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for PCCA