LIPH (lipase H)

2012-01-01  

Identity

HGNC
LOCATION
3q27.2
LOCUSID
ALIAS
AH,ARWH2,HYPT7,LAH2,LPDLR,PLA1B,mPA-PLA1
FUSION GENES

Other Information

Locus ID:

NCBI: 200879
MIM: 607365
HGNC: 18483
Ensembl: ENSG00000163898

Variants:

dbSNP: 200879
ClinVar: 200879
TCGA: ENSG00000163898
COSMIC: LIPH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163898ENST00000296252Q8WWY8
ENSG00000163898ENST00000424591A2IBA6
ENSG00000163898ENST00000429510F8WE09
ENSG00000163898ENST00000435679H7BZL3
ENSG00000163898ENST00000452897H7C2X1

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Digestion of dietary lipidREACTOMER-HSA-192456

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
120632502002A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid.44
170957002006Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.37
218576482011LPA-producing enzyme PA-PLA₁α regulates hair follicle development by modulating EGFR signalling.31
188302682009Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.18
195361422009In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.13
202137682010Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.13
173332812007A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.12
192626062009Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.12
184450472008A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).9
122131962002Lipase H, a new member of the triglyceride lipase family synthesized by the intestine.8

Citation

Dessen P

LIPH (lipase H)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52531/liph