NCBI Description of TYR
|The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene.|
Community Annotation of TYR Add / Edit TYR: Annotations
No community annotations yet for TYR.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.