Lipase H

Alternative Names

  • LIPH
  • Membrane Associated Phoshatidic Acid-Selective Phospholipase A1
  • MPAPLA1
  • Phospholipase A1, Phosphatidic Acid-Selective, Membrane-Associated
  • LPD Lipase-Related Protein
  • LPDLR

Associated Diseases

Hypotrichosis 7
Back to search Result
OMIM Number

607365

NCBI Gene ID

200879

Uniprot ID

Q8WWY8

Length

46,394 bases

No. of Exons

12

No. of isoforms

1

Protein Name

Lipase Member H

Molecular Mass

50859 Da

Amino Acid Count

451

Genomic Location

chr3:185,506,262-185,552,655

Gene Map Locus
3q27.2

Description

The LIPH gene encodes Lipase H, an enzyme responsible for catalysing the hydrolysis of phosphatidic acid into lysophosphatidic acid (LPA) and fatty acid. LPA is a potent lipid mediator and is involved in cell differentiation, migration and apoptosis. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_139248.2:c.179C>GLebanonNC_000003.12:g.185535003G>CPathogenicHypotrichosis 7 NG_012183.1:g.22579C>G; NM_139248.2:c.179C>G; NP_640341.1:p.Ser60Ter
© CAGS 2024. All rights reserved.