Lipase H (LIPH)

LPDLR; MPAPLA1; PLA1B; mPA-PLA1; LPD lipase-related protein; Phospholipase A1 member B; Membrane-associated phosphatidic acid-selective phospholipase A1-alpha

SPN	S610
HGNC	18483
MGI	2388029
PubMed	12213196
UniProt	Q8WWY8
Wiki	LIPH

Lipase member H is a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility.Present in intestine (at protein level). Expressed in colon, prostate, kidney, pancreas, ovary, testis, intestine, lung and pancreas. Expressed at lower level in brain, spleen and heart. In hair, it is prominently expressed in hair follicles, including the stem cell-rich bulge region.Defects in LIPH are the cause of alopecia universalis congenita Mari type (AUCM). AUCM is a recessive autosomal form of alopecia that is common in the Mari population, a large aboriginal Finno-Ugric population in the Volga-Ural region of Russia.

Reference

"A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid."
J. Biol. Chem. 277:34254-34263(2002) [PubMed] [Europe PMC] [Abstract]

"Lipase h, a new member of the triglyceride lipase family synthesized by the intestine."
Genomics 80:268-273(2002) [PubMed] [Europe PMC] [Abstract]

"Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH."
Science 314:982-985(2006) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans."
Hum. Mol. Genet. 12:1131-1143(2003) [PubMed] [Europe PMC] [Abstract]

"Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta."
J. Biol. Chem. 278:49438-49447(2003) [PubMed] [Europe PMC] [Abstract]

"Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2)."
J. Dermatol. Sci. 54:12-16(2009) [PubMed] [Europe PMC] [Abstract]

"Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis."
J. Invest. Dermatol. 129:622-628(2009) [PubMed] [Europe PMC] [Abstract]