What is the exact location on the chromosome for the gene causing albinism?
I'm trying to find out the exact location of the gene causing OCA1. This causes the tyrosinase enzyme not to function correctly. I know that it's located on chromosome 11 at locus 11q14-q21. But can somebody show me on a map of he chromosome where it is located? thanks!
Public Comments
- Here you go: http://genome.ucsc.edu/cgi-bin/hgTracks?db=hg18&position=chr11:88550688-88668474&hgsid=87603818&knownGene=full The gene is called TYR - tyrosinase.
- Here is a very detailed map of chromosome 11 http://gdb.jst.go.jp/HOWDYCL/HOWDY.pl?Cls=Marker&Key=UKEY&Val=31206 Even more detailed: http://gdb.jst.go.jp/HOWDYCL/CM/topCM.pl?Chrom=11&key=31206&dtype=5 A bit more info on OMIM: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203100 (you can click on the links, here is the text) OCULOCUTANEOUS ALBINISM, TYPE I; OCA1 Alternative titles; symbols ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A ALBINISM I OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVE; ATN Gene map locus 11q14-q21 TEXT A number sign (#) is used with this entry because oculocutaneous albinism type IA is caused by mutation in the tyrosinase gene (TYR; 606933). DESCRIPTION Oculocutaneous albinism type I is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes, and does not vary with race or age. Severe nystagmus, photophobia, and reduced visual acuity are common features. OCA1 is divided into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB (OCA1B; 606952), characterized by reduced activity of tyrosinase.
Powered by Yahoo! Answers