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Genetics Home Reference: your guide to understanding genetic conditions
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TYRP1

Reviewed March 2007

What is the official name of the TYRP1 gene?

The official name of this gene is “tyrosinase-related protein 1.”

TYRP1 is the gene's official symbol. The TYRP1 gene is also known by other names, listed below.

What is the normal function of the TYRP1 gene?

The 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 color. 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.

How are changes in the TYRP1 gene related to health conditions?

oculocutaneous albinism - caused by mutations in the TYRP1 gene

A small number of mutations in the TYRP1 gene have been found to cause oculocutaneous albinism type 3. This condition includes a form of albinism called rufous oculocutaneous albinism, which has been described primarily in dark-skinned people from southern Africa. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Two TYRP1 mutations are known to cause this form of albinism in individuals from Africa. One mutation replaces a protein building block (amino acid) in tyrosine-related protein 1 with a signal that prematurely stops protein production. This mutation, written as Ser166Ter or S166X, affects the amino acid serine at protein position 166. The other mutation, written as 368delA, deletes a single DNA building block from the TYRP1 gene. Other alterations in this gene have been reported in a few affected people of non-African heritage. Most TYRP1 mutations lead to the production of an abnormally short, nonfunctional version of tyrosinase-related protein 1. Because this enzyme plays a role in normal pigmentation, its loss leads to the changes in skin, hair, and eye coloration that are characteristic of oculocutaneous albinism.

Where is the TYRP1 gene located?

Cytogenetic Location: 9p23

Molecular Location on chromosome 9: base pairs 12,693,385 to 12,710,265

The TYRP1 gene is located on the short (p) arm of chromosome 9 at position 23.

The TYRP1 gene is located on the short (p) arm of chromosome 9 at position 23.

More precisely, the TYRP1 gene is located from base pair 12,693,385 to base pair 12,710,265 on chromosome 9.

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 TYRP1?

You and your healthcare professional may find the following resources about TYRP1 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 TYRP1 gene or gene products?

  • b-PROTEIN
  • CAS2
  • Catalase B
  • CATB
  • DHICA oxidase
  • Glycoprotein 75
  • GP75
  • TRP
  • TRP-1
  • TYRP
  • TYRP1_HUMAN

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 TYRP1?

albinism ; amino acid ; DNA ; enzyme ; gene ; melanin ; melanocytes ; mutation ; oxidase ; pigment ; pigmentation ; protein ; retina ; serine ; tissue ; Trp ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/9434945?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15996218?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/9345097?dopt=Abstract)
  • Murisier F, Beermann F. Genetics of pigment cells: lessons from the tyrosinase gene family. Histol Histopathol. 2006 May;21(5):567-78. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16493586?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7306)
  • Rooryck C, Roudaut C, Robine E, Müsebeck J, Arveiler B. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment Cell Res. 2006 Jun;19(3):239-42. (http://www.ncbi.nlm.nih.gov/pubmed/16704458?dopt=Abstract)
  • Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001 Dec;14(6):437-44. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11775055?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: March 2007
Published: July 27, 2015