人 VPS13A (NM_001018037) cDNA克隆

Accession: NM_001018037
基因名称: VPS13A
基因别名: CHAC; CHOREIN
基因描述: Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant C, mRNA.
种属: Human
CDS区长度: 9408 (查看编码区序列)
翻译后氨基酸长度: 3135 (查看氨基酸序列)
Transcript Variant: This variant (C), also known as 2A, lacks an alternate in-frame segment, compared to variant A, resulting in a shorter protein (isoform C), compared to isoform A.
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G140358 人 VPS13A (NM_001018037) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]