C188896Level 6
LIPA wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human LIPA wild-type allele is located in the vicinity of 10q23.31 and is approximately 201 kb in length. This allele, which encodes lysosomal acid lipase/cholesteryl ester hydrolase protein, plays a role in the lysosomal metabolism of low density lipoproteins. Loss of function gene mutations are associated with cholesteryl ester storage disease and Wolman disease.
**Synonyms:** - CESD - LAL - Lipase A, Lysosomal Acid Gene - Lipase A, Lysosomal Acid Type wt Allele - Lipase A, Lysosomal Acid, Cholesterol Esterase Gene - Wolman Disease Gene
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