lipase H
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L LIPH gene provides instructions for making an enzyme called lipase H. This enzyme is found in many cells and tissues, where it breaks down the molecule phosphatidic acid into lysophosphatidic acid (LPA) and free fatty acid. LPA is a ligand, which means that it attaches (binds) to certain proteins called receptors. A ligand and its receptor fit together like a key in a lock. LPA has multiple receptors and is involved in many cellular functions, such as cell growth and division (proliferation), cell movement (migration), and the self-destruction of cells (apoptosis).
Normal function
L LIPH gene provides instructions for making an enzyme called lipase H. This enzyme is found in many cells and tissues, where it breaks down the molecule phosphatidic acid into lysophosphatidic acid (LPA) and free fatty acid. LPA is a ligand, which means that it attaches (binds) to certain proteins called receptors. A ligand and its receptor fit together like a key in a lock. LPA has multiple receptors and is involved in many cellular functions, such as cell growth and division (proliferation), cell movement (migration), and the self-destruction of cells (apoptosis).
One of LPA's receptors, the LPA6 protein, regulates the proliferation and maturation (differentiation) of cells within hair follicles, which are specialized structures in the skin where hair growth occurs. These cell processes are important for the normal development of hair follicles and for hair growth; as the cells in the hair follicle divide, the hair strand (shaft) is pushed upward and extends beyond the skin, causing the hair to grow. Lipase H is also found in the outermost layer of skin (the epidermis) and glands in the skin that produce a substance that protects the skin and hair (sebaceous glands).
Conditions referring to this gene or chromosome
Altri nomi
lipase member H
lipase, member H
LIPH_HUMAN
LPD lipase-related protein
LPDLR
membrane-associated phosphatidic acid-selective phospholipase A1-alpha
membrane-bound phosphatidic acid-selective phospholipase A1
mPA-PLA1
mPA-PLA1 alpha
phospholipase A1 member B
PLA1B
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Ulteriori letture e riferimenti
- lipase H; MedlinePlus, National Library of Medicine.
- Horev L, Tosti A, Rosen I, Hershko K, Vincenzi C, Nanova K, Mali A, Potikha T, Zlotogorski A. Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. J Am Acad Dermatol. 2009 Nov;61(5):813-8. doi: 10.1016/j.jaad.2009.04.020. Epub 2009 Sep 18.
- Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21.
- Kurban M, Wajid M, Shimomura Y, Christiano AM. Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. J Eur Acad Dermatol Venereol. 2013 May;27(5):545-9. doi: 10.1111/j.1468-3083.2012.04472.x. Epub 2012 Mar 5.
- Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. Epub 2008 Oct 2.
- Shimomura Y, Wajid M, Zlotogorski A, Lee YJ, Rice RH, Christiano AM. Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol. 2009 Aug;129(8):1927-34. doi: 10.1038/jid.2009.19. Epub 2009 Mar 5.
- Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R, Ito K, Nakamura H, Ujiie H, Shibaki A, Suga H, Tsunemi Y, Nishie W, Shimizu H. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. Hum Mutat. 2010 May;31(5):602-10. doi: 10.1002/humu.21235.
- Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, Shimizu H, Akiyama M. Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. J Eur Acad Dermatol Venereol. 2013 Sep;27(9):1182-4. doi: 10.1111/j.1468-3083.2012.04526.x. Epub 2012 Mar 26.
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