This gene encodes the human homolog 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, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| OCA2-20-RE | 20 (40 μL) | 200 μL |  |
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| OCA2-20-OR | 20 (40 μL) | 200 μL |  |
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| OCA2-20-GO | 20 (40 μL) | 200 μL |  |
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| OCA2-20-GR | 20 (40 μL) | 200 μL |  |
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| OCA2-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes the human homolog 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, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Symbol : OCA2
Gene Name : OCA2 melanosomal transmembrane protein
Chromosome : CHR 15: 280,993,41-277,190,07
Locus : 15q12-q13.1
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