人 STOM (NM_001270526) cDNA克隆

Accession: NM_001270526
基因名称: STOM
基因别名: BND7; EPB7; EPB72
基因描述: Homo sapiens stomatin (STOM), transcript variant 3, mRNA.
种属: Human
CDS区长度: 594 (查看编码区序列)
翻译后氨基酸长度: 197 (查看氨基酸序列)
Transcript Variant: This variant (3) uses two alternate splice sites in the 3' coding region, which result in a frameshift, compared to variant 1. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform 1.
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G109069 人 STOM (NM_001270526) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]