" /> LIPA wt Allele - CISMeF





Preferred Label : LIPA wt Allele;

NCIt synonyms : Lipase A, Lysosomal Acid, Cholesterol Esterase Gene; Wolman Disease Gene; CESD; Lipase A, Lysosomal Acid Gene; LAL; Lipase A, Lysosomal Acid Type wt Allele;

NCIt 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.;

NCI Metathesaurus CUI : CL1794049;

GenBank Accession Number : M74775;

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29/07/2025


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