Article
Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.
Clinical and experimental dermatology - 1 Jul 2014
Shah S A, Din S U, Raheem N, Daud S, Mubeen J, Nadeem A, Tayyab M, Baloch D M, Babar M E, Ahmad J
Abstract excerpt
The TYR gene (MIM #6069333) is located at position 11q14.3 on the human chromosome, and encodes tyrosinase, which is expressed in melanocytes and controls the biosynthesis of melanin. Most TYR mutations eliminate the activity of tyrosinase, preventing melanocytes from producing any melanin throughout life. People with this form of albinism have white hair, light-coloured eyes and very pale skin. Some mutations in...
Topics
- Adolescent
- Adult
- Albinism, Oculocutaneous
- Asian People
- Child
- Child, Preschool
- DNA Mutational Analysis
- Exons
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Monophenol Monooxygenase
- Mutation, Missense