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).
Hypotrichosis 7
HYPT7
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. HYPT7 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Woolly hair autosomal recessive 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the AB hydrolase superfamily. Lipase family.
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 the skin, it is prominently expressed in hair follicles, including the stem cell-rich bulge region and the inner root sheath (PubMed:17095700, PubMed:32336749).
LPDLR, MPAPLA1, PLA1B, LIPH, Lipase member H, LPD lipase-related protein, Membrane-associated phosphatidic acid-selective phospholipase A1-alpha, Phospholipase A1 member B, mPA-PLA1 alpha
Proteins
Immunology & Infectious Disease
50859Da
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