C50946Level 5
TYR wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human TYR wild-type allele is located within 11q14-q21 and is approximately 118 kb in length. This allele, which encodes tyrosinase protein, plays a role in the multi-step biosynthesis of melanin from tyrosine. Allelic variants of the TYR gene cause three different types of oculocutaneous albinism.
**Synonyms:** - ATN - CMM8 - OCA1 - OCA1A - OCAIA - SHEP3 - Tyrosinase (Oculocutaneous Albinism IA) Gene - Tyrosinase wt Allele
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