人 VPS13A (NM_001018038) cDNA克隆

Accession: NM_001018038
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 D, mRNA.
种属: Human
CDS区长度: 9210 (查看编码区序列)
翻译后氨基酸长度: 3069 (查看氨基酸序列)
Transcript Variant: This variant (D), also known as 1D, contains a distinct 3' coding region and 3' UTR, compared to variant A. The resulting isoform (D) has a shorter C-terminus compared to isoform A.
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G140359 人 VPS13A (NM_001018038) 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]