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Genetics Home Reference: your guide to understanding genetic conditions
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LIPH

Reviewed April 2013

What is the official name of the LIPH gene?

The official name of this gene is “lipase, member H.”

LIPH is the gene's official symbol. The LIPH gene is also known by other names, listed below.

What is the normal function of the LIPH gene?

The 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).

How are changes in the LIPH gene related to health conditions?

autosomal recessive hypotrichosis - caused by mutations in the LIPH gene

More than 15 mutations in the LIPH gene have been found to cause autosomal recessive hypotrichosis, a condition that results in sparse hair growth (hypotrichosis) on the scalp and, less frequently, other parts of the body. Some mutations are specific to groups with Pakistani or Japanese ancestry, or in the Mari and Chuvash populations of Russia. LIPH gene mutations lead to the production of a lipase H enzyme with little or no function. Without functional lipase H, LPA is not produced. A lack of LPA impairs many cellular functions, including the proliferation and maturation of the cells that make up hair follicles. As a result, hair follicles are structurally abnormal and often underdeveloped. Irregular hair follicles alter the structure and growth of hair shafts, leading to fragile hair that breaks easily. A lack of lipase H function in the epidermis likely contributes to the skin problems sometimes seen in individuals with autosomal recessive hypotrichosis.

other disorders - caused by mutations in the LIPH gene

Mutations in the LIPH gene can also cause a hair condition called autosomal recessive woolly hair. People with this condition have hair that is unusually coarse, dry, fine, and tightly curled. Woolly hair typically affects only scalp hair and is present from birth. In some cases, affected individuals develop hypotrichosis as they get older. Certain LIPH gene mutations cause autosomal recessive woolly hair in some people and autosomal recessive hypotrichosis (described above) in others, even among members of the same family. Because of a shared genetic cause and overlapping features, it is uncertain whether these two conditions are separate disorders or part of the same disease spectrum.

Where is the LIPH gene located?

Cytogenetic Location: 3q27

Molecular Location on chromosome 3: base pairs 185,507,781 to 185,552,587

The LIPH gene is located on the long (q) arm of chromosome 3 at position 27.

The LIPH gene is located on the long (q) arm of chromosome 3 at position 27.

More precisely, the LIPH gene is located from base pair 185,507,781 to base pair 185,552,587 on chromosome 3.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about LIPH?

You and your healthcare professional may find the following resources about LIPH helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the LIPH gene or gene products?

  • lipase 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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding LIPH?

apoptosis ; autosomal ; autosomal recessive ; cell ; differentiation ; enzyme ; epidermis ; gene ; hair follicle ; hypotrichosis ; ligand ; lipase ; molecule ; proliferation ; protein ; receptor ; recessive ; spectrum

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19766349?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/21426374?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/22385360?dopt=Abstract)
  • OMIM: LIPASE H (http://omim.org/entry/607365)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/200879)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18830268?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19262606?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/20213768?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/22449147?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2013
Published: December 22, 2014