Normal Function
The SLURP1 gene provides instructions for making a protein called secreted Ly6/uPAR-related protein-1 (SLURP-1). This protein is found in skin cells and other cells that line the surfaces and cavities of the body VSports手机版. Like other Ly6/uPAR-related proteins, SLURP-1 folds into a particular shape and is thought to attach (bind) to other proteins called receptors to carry out signaling within cells. However, SLURP-1's role in the skin and the rest of the body is not completely understood.
Laboratory studies show that SLURP-1 can bind to nicotinic acetylcholine receptors (nAChRs). SLURP-1 specifically interacts with the alpha7 (α7) subunit, which is a piece of some nAChRs. Nicotinic acetylcholine receptors are best known for their role in chemical signaling between nerve cells, but they are also found in other tissues. In the skin, nAChRs regulate the activity of genes involved in the growth and division (proliferation), maturation (differentiation), and survival of cells V体育安卓版. Through its interaction with these receptors, SLURP-1 may be involved in skin growth and development.
Health Conditions Related to Genetic Changes
V体育官网 - Mal de Meleda
At least 15 mutations in the SLURP1 gene have been found to cause mal de Meleda, a rare disorder characterized by tough, thickened skin on the hands and feet. On the palms and soles, the thickening is known as palmoplantar keratoderma; the thickened skin also extends to the backs of the hands and feet and up to the wrists and ankles. The SLURP1 gene mutations involved in this condition lead to production of an altered SLURP-1 protein that is unstable and quickly broken down, if any protein is produced at all. As a result, affected individuals have little or no SLURP-1 protein. It is unclear how a lack of this protein leads to the skin problems that occur in mal de Meleda. Researchers speculate that without SLURP-1, the activity of genes controlled by nAChR signaling is altered, leading to overgrowth of skin cells or survival of cells that normally would have died V体育ios版. The excess of cells can result in skin thickening. It is unclear why skin on the hands and feet is particularly affected.
More About This Health ConditionOther Names for This Gene
- anti-neoplastic urinary protein
- ANUP
- ARS
- ARS(component B)-81/S
- ArsB
- LY6LS
- lymphocyte antigen 6-like secreted
- MDM
- secreted Ly-6/uPAR-related protein 1
- secreted Ly-6/uPAR-related protein 1 precursor
- secreted Ly6/uPAR related protein 1
"VSports注册入口" Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
VSports最新版本 - Catalog of Genes and Diseases from OMIM
References
- Arredondo J, Chernyavsky AI, Webber RJ, Grando SA. Biological effects of SLURP-1 on human keratinocytes. J Invest Dermatol. 2005 Dec;125(6):1236-41. doi: 10.1111/j.0022-202X.2005.23973.x. Citation on PubMed
- Arredondo J, Nguyen VT, Chernyavsky AI, Bercovich D, Orr-Urtreger A, Kummer W, Lips K, Vetter DE, Grando SA. Central role of alpha7 nicotinic receptor in differentiation of the stratified squamous epithelium. J Cell Biol. 2002 Oct 28;159(2):325-36. doi: 10.1083/jcb.200206096. Epub 2002 Oct 21. "V体育2025版" Citation on PubMed or Free article on PubMed Central
- Chimienti F, Hogg RC, Plantard L, Lehmann C, Brakch N, Fischer J, Huber M, Bertrand D, Hohl D. Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. Hum Mol Genet. 2003 Nov 15;12(22):3017-24. doi: 10.1093/hmg/ddg320. Epub 2003 Sep 23. "VSports app下载" Citation on PubMed
- Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nurnberg P, Reis A, Hennies HC. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet. 2003 Jan;112(1):50-6. doi: 10.1007/s00439-002-0838-8. Epub 2002 Oct 19. Citation on PubMed
- Favre B, Plantard L, Aeschbach L, Brakch N, Christen-Zaech S, de Viragh PA, Sergeant A, Huber M, Hohl D. SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda. J Invest Dermatol. 2007 Feb;127(2):301-8. doi: 10.1038/sj.jid.5700551. Epub 2006 Sep 28. Citation on PubMed
- Fischer J, Bouadjar B, Heilig R, Huber M, Lefevre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme JF. Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet. 2001 Apr 1;10(8):875-80. doi: 10.1093/hmg/10.8.875. VSports最新版本 - Citation on PubMed
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