人 SUMF1 (NM_182760) cDNA克隆

Accession: NM_182760
基因名称: SUMF1
基因别名: FGE; UNQ3037; AAPA3037
基因描述: Homo sapiens sulfatase modifying factor 1 (SUMF1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1125 (查看编码区序列)
翻译后氨基酸长度: 374 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
产品编号 产品名称 载体 规格 价格
G122196 人 SUMF1 (NM_182760) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]