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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. [provided by RefSeq, Oct 2008]
Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins

Predicted location

Membrane

Single cell type specificity

Cell type enriched (Melanocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (SK-MEL-30)

Interaction

Forms an OPN3-dependent complex with DCT in response to blue light in melanocytes.

Molecular function

Monooxygenase, Oxidoreductase, Tumor antigen

More Types Infomation

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