人 PCCA (NM_001127692) cDNA克隆

Accession: NM_001127692
基因名称: PCCA
基因描述: Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2109 (查看编码区序列)
翻译后氨基酸长度: 702 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to NM_000282.3.
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G153832 人 PCCA (NM_001127692) cDNA克隆 pDONR223 2ug质粒 点击询价

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]