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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PCCA-20-RE | 20 (40 μL) | 200 μL |  |
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| PCCA-20-OR | 20 (40 μL) | 200 μL |  |
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| PCCA-20-GO | 20 (40 μL) | 200 μL |  |
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| PCCA-20-GR | 20 (40 μL) | 200 μL |  |
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| PCCA-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PCCA
Gene Name : Propionyl-CoA carboxylase alpha subunit
Chromosome : CHR 13: 100,089,014-100,530,436
Locus : 13q32.3
Alt. Genes : OPTN
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