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TYRP1 tyrosinase-related protein 1

Also known as: TRP; CAS2; CATB; GP75; OCA3; TRP1; TYRP; b-PROTEIN


This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]

Associated conditions

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Oculocutaneous albinism type 3
MedGen: C1859932OMIM: 203290GeneReviews: Not available
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Skin/hair/eye pigmentation, variation in, 11
MedGen: C2677086OMIM: 612271GeneReviews: Not available
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Genomic context

Chromosome: 9; NC_000009.12 (12693386..12710266)
Total number of exons:


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