Lipase H (LIPH) ELISA Kit for Sheep

This gene encodes 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. [provided by RefSeq, Jul 2008]

LIPH: Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG). Defects in LIPH are the cause of hypotrichosis type 7 (HYPT7); also known as alopecia universalis congenita Mari type. A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes. Defects in LIPH are the cause of woolly hair autosomal recessive type 2 (ARWH2). A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis. Belongs to the AB hydrolase superfamily. Lipase family.

Protein type: EC 3.1.1.-; Phospholipase; Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 3q27

Cellular Component: extracellular space; plasma membrane

Molecular Function: heparin binding; phospholipase activity

Biological Process: lipid catabolic process

Disease: Hypotrichosis 7