LIPA wt Allele

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;

Details

Origin ID

C188896;

UMLS CUI

C5702693;

Automatic exact mappings (from CISMeF team)
- Cholesteryl ester storage disease [ICD-11 More detail]
OMIM relation
- Lipase a, lysosomal acid [OMIM gene]
See also inter- (CISMeF)
- Lysosomal acid lipase deficiency [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Lipase a, lysosomal acid [OMIM gene]
- lipase A, lysosomal acid type [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q23.31 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
- Sterol Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- Fatty Acid Metabolism [NCIt concept]
- Hydrolysis [NCIt concept]
- Steroid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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