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Genetics Home Reference: your guide to understanding genetic conditions
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LPAR6

Reviewed April 2013

What is the official name of the LPAR6 gene?

The official name of this gene is “lysophosphatidic acid receptor 6.”

LPAR6 is the gene's official symbol. The LPAR6 gene is also known by other names, listed below.

What is the normal function of the LPAR6 gene?

The LPAR6 gene provides instructions for making a protein called lysophosphatidic acid receptor 6 (LPA6). This protein functions as a receptor. Receptor proteins have particular sites into which certain other proteins, called ligands, fit like keys into locks. A specific fat called lysophosphatidic acid (LPA) is the ligand for the LPA6 protein. LPA can attach to many receptors, but LPA6 is the only LPA receptor found in hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. 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. The LPA6 protein is also found in the outermost layer of skin (the epidermis). Attachment of LPA to LPA6 helps regulate the growth and division (proliferation) and maturation (differentiation) of cells in the hair follicle.

Does the LPAR6 gene share characteristics with other genes?

The LPAR6 gene belongs to a family of genes called GPCR (G protein-coupled receptors).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the LPAR6 gene related to health conditions?

autosomal recessive hypotrichosis - caused by mutations in the LPAR6 gene

More than 30 LPAR6 gene mutations 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 populations with Pakistani ancestry. LPAR6 gene mutations lead to the production of an abnormal LPA6 protein that cannot bind to LPA to regulate cell proliferation and differentiation within 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 LPA6 protein 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 LPAR6 gene

Mutations in the LPAR6 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 LPAR6 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 LPAR6 gene located?

Cytogenetic Location: 13q14

Molecular Location on chromosome 13: base pairs 48,411,044 to 48,444,703

The LPAR6 gene is located on the long (q) arm of chromosome 13 at position 14.

The LPAR6 gene is located on the long (q) arm of chromosome 13 at position 14.

More precisely, the LPAR6 gene is located from base pair 48,411,044 to base pair 48,444,703 on chromosome 13.

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 LPAR6?

You and your healthcare professional may find the following resources about LPAR6 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 LPAR6 gene or gene products?

  • G-protein coupled purinergic receptor P2Y5
  • LPA-6
  • LPAR6_HUMAN
  • LPA receptor 6
  • oleoyl-L-alpha-lysophosphatidic acid receptor
  • P2RY5
  • P2Y5
  • P2Y purinoceptor 5
  • purinergic receptor 5
  • purinergic receptor P2Y, G-protein coupled, 5
  • purinergic receptor P2Y G protein-coupled protein 5
  • RB intron encoded G-protein coupled receptor

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 LPAR6?

autosomal ; autosomal recessive ; cell ; cell proliferation ; differentiation ; epidermis ; gene ; hair follicle ; hypotrichosis ; intron ; ligand ; 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

  • Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W. Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7. (http://www.ncbi.nlm.nih.gov/pubmed/18461368?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: LYSOPHOSPHATIDIC ACID RECEPTOR 6 (http://omim.org/entry/609239)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10161)
  • Pasternack SM, von Kügelgen I, Al Aboud K, Lee YA, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC. G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet. 2008 Mar;40(3):329-34. doi: 10.1038/ng.84. Epub 2008 Feb 24. (http://www.ncbi.nlm.nih.gov/pubmed/18297070?dopt=Abstract)
  • Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet. 2008 Mar;40(3):335-9. doi: 10.1038/ng.100. Epub 2008 Feb 24. (http://www.ncbi.nlm.nih.gov/pubmed/18297072?dopt=Abstract)
  • Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, Raza SI, Naveed AK, ullah Khan S, Azeem Z, Yasinzai M, Wali A, Ali G, Chishti MS, Ahmad W. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. Br J Dermatol. 2009 May;160(5):1006-10. doi: 10.1111/j.1365-2133.2009.09046.x. Epub 2009 Mar 9. (http://www.ncbi.nlm.nih.gov/pubmed/19292720?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