Lipase a, lysosomal acid type

Lipase A, lysosomal acid type is a protein that in humans is encoded by the LIPA gene. [5]

LIPA
Identifiers
AliasesLIPA, CESD, LAL, lipase A, lysosomal acid type
External IDsOMIM: 613497; MGI: 96789; HomoloGene: 37277; GeneCards: LIPA; OMA:LIPA - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000235
NM_001127605
NM_001288979

NM_001111100
NM_021460

RefSeq (protein)

NP_000226
NP_001121077
NP_001275908

NP_001104570
NP_067435

Location (UCSC)Chr 10: 89.21 – 89.41 MbChr 19: 34.47 – 34.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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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].

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107798Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024781Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Lipase A, lysosomal acid type". Retrieved 2018-08-22.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.