OCA2 Back

oculocutaneous albinism II

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NCBI Description of OCA2

This gene encodes the human homologue of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism.

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


OCA2 is highly significantly mutated in
OCA2 is significantly mutated in
OCA2 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for OCA2