基因名称: | lipase A, lysosomal acid, cholesterol esterase |
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物种: | 人 |
NCBI 基因身份号(GeneID): | 3988 |
官方基因符号(Symbol): | LIPA |
曾用基因符号: | CESD|LAL |
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 have been found for this gene. [provided by RefSeq, Jan 2014].
NM_000235.2 |
NM_001127605.1 |
产品编号 | 检测的转录产物 | |
---|---|---|
EXPHS86012 | NM_000235.2 NM_001127605.1 |
说明:本公司表达谱PCR芯片产品使用该引物。