tyrosinase related protein 1
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L TYRP1 gene provides instructions for making an enzyme called tyrosinase-related protein 1. This enzyme is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their colour. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Normal function
L TYRP1 gene provides instructions for making an enzyme called tyrosinase-related protein 1. This enzyme is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their colour. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Tyrosinase-related protein 1 is involved in the production of melanin, although its exact functions are unclear. Studies suggest that this enzyme may help stabilize tyrosinase, which is the enzyme responsible for the first step in melanin production. Tyrosinase-related protein 1 may also help determine the shape of melanosomes, which are the structures in melanocytes where melanin is produced.
Conditions referring to this gene or chromosome
Altri nomi
b-PROTEIN
CAS2
Catalase B
CATB
DHICA oxidase
Glycoprotein 75
GP75
TRP
TRP-1
tyrosinase-related protein 1
TYRP
TYRP1_HUMAN
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Ulteriori letture e riferimenti
- tyrosinase related protein 1; MedlinePlus, National Library of Medicine.
- Box NF, Wyeth JR, Mayne CJ, O'Gorman LE, Martin NG, Sturm RA. Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. Mamm Genome. 1998 Jan;9(1):50-3. doi: 10.1007/s003359900678.
- Forshew T, Khaliq S, Tee L, Smith U, Johnson CA, Mehdi SQ, Maher ER. Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clin Genet. 2005 Aug;68(2):182-4. doi: 10.1111/j.1399-0004.2005.00460.x. No abstract available.
- Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet. 1997 Nov;61(5):1095-101. doi: 10.1086/301603.
- Murisier F, Beermann F. Genetics of pigment cells: lessons from the tyrosinase gene family. Histol Histopathol. 2006 May;21(5):567-78. doi: 10.14670/HH-21.567.
- Rooryck C, Roudaut C, Robine E, Musebeck J, Arveiler B. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment Cell Res. 2006 Jun;19(3):239-42. doi: 10.1111/j.1600-0749.2006.00298.x.
- Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001 Dec;14(6):437-44. doi: 10.1034/j.1600-0749.2001.140603.x.
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