人 NSDHL (NM_015922) cDNA克隆

Accession: NM_015922
基因名称: NSDHL
基因别名: H105E3; XAP104; SDR31E1
基因描述: Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1122 (查看编码区序列)
翻译后氨基酸长度: 373 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the more predominant transcript. Transcript variants 1 and 2 encode the same protein.
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G106285 人 NSDHL (NM_015922) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]