人 VPS13B (NM_152564) cDNA克隆

Accession: NM_152564
基因名称: VPS13B
基因别名: CHS1; COH1
基因描述: Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 1, mRNA.
种属: Human
CDS区长度: 11994 (查看编码区序列)
翻译后氨基酸长度: 3997 (查看氨基酸序列)
Transcript Variant: This variant (1) lacks one alternate in-frame exon and includes a different in-frame exon, compared to variant 5. The resulting isoform (1) is shorter and varies within this region of the protein, but has the same C- and N-termini, compared to isoform 5.
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G132506 人 VPS13B (NM_152564) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]