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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.
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Microglial cells, Oligodendrocyte precursor cells, Oligodendrocytes, Inhibitory neurons, Excitatory neurons, Astrocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (RPTEC TERT1, SCLC-21H, U-937)

Interaction

The holoenzyme is a dodecamer composed of 6 PCCA/alpha subunits and 6 PCCB/beta subunits (PubMed:6765947, PubMed:20725044). Interacts (via the biotin carboxylation domain) with SIRT4 (PubMed:23438705). Interacts with SIRT3 and SIRT5 (PubMed:23438705).

Molecular function

Ligase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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