OCA2 gene

OCA2 gene is a gene that in humans is located on the long (q) arm of chromosome 15 between positions 12 and 13.1. The OCA2 gene provides instructions for making a protein that is located in the melanosome, an organelle where melanin is produced. Melanin is a pigment that gives color to the skin, hair, and eyes. The OCA2 protein is involved in the maturation of melanosomes and affects the amount and type of pigment produced.

Function

The OCA2 gene provides instructions for making a protein that is located in the melanosome, an organelle where melanin is produced. Melanin is a pigment that gives color to the skin, hair, and eyes. The OCA2 protein is involved in the maturation of melanosomes and affects the amount and type of pigment produced.

Clinical significance

Mutations in the OCA2 gene result in type 2 oculocutaneous albinism. This condition is characterized by reduced pigmentation of the skin, hair, and eyes and vision problems. People with this condition usually have light skin and hair color, as well as blue eyes. However, pigmentation can increase over time, and the skin, hair, and eye color can become darker.

Genetics

The OCA2 gene is located on the long (q) arm of chromosome 15 at position 12.1. This gene is dominantly inherited, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

See also

• Oculocutaneous albinism
• Melanin
• Melanosome
• Chromosome 15

External links

• OCA2 gene - Genetics Home Reference
• OCA2 gene - NCBI

OCA2 gene Resources
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