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TYRP1 tyrosinase-related protein 1

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

Summary

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

See all available tests in GTR for this gene

DescriptionTests
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

Location:
9p23
Sequence:
Chromosome: 9; NC_000009.12 (12693386..12710266)
Total number of exons:
8

Links

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