人 LIPA (NM_001127605) cDNA克隆

Accession: NM_001127605
基因名称: LIPA
基因别名: LAL; CESD
基因描述: Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1200 (查看编码区序列)
翻译后氨基酸长度: 399 (查看氨基酸序列)
Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
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G106482 人 LIPA (NM_001127605) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]