Albinism (TYR)

• Albinism is coded for by a mutation of the TYR gene on chromosome 11
• In albinism, the pigment melanin is totally or partially missing from eyes, skin and hair
• Melanin is produced by the following metabolic pathway

  
• A recessive allele in gene for enzyme tyrosinase results in either it's absence, or an inactive form
• Without Tyrosinase, Tyrosine cannot be converted into DOPA and Dopaquinone.
• As a result, the conversion of tyrosine into melanin cannot take place
• Mutation causing Albinism is a substitution of Glu -> Tyr