What does the OCA2 gene code for?
Normal Function The OCA2 gene (formerly called the P gene) provides instructions for making a protein called the P protein. This protein is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color.
What gene does OCA2 affect?
P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene….
| OCA2 | ||
|---|---|---|
| UniProt | Q04671 | Q62052 |
| RefSeq (mRNA) | NM_000275 NM_001300984 | NM_021879 |
| RefSeq (protein) | NP_000266 NP_001287913 | NP_068679 |
Is OCA2 dominant or recessive?
Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene.
What is OCA2 gene made of?
The OCA2 gene (formerly called the P gene) provides instructions for making a protein called the P protein. This protein is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color.
What causes OCA2?
OCA2 is associated with mutations in the OCA2 gene (also called the P gene). The OCA2 gene is responsible for production of the OCA2 protein.
Are the OCA2 and Gey genes genetically linked?
In effect, there is a hierarchy: the OCA2 gene is epistatic to the gey gene (in other words, the product of the OCA2 gene masks the product of the gey gene). If one allele at the OCA2 gene site encodes the brown eye trait, the alleles at the gey sites are irrelevant and the eyes are brown.
What eye color is OCA2?
Lots of melanin in the iris gives brown eyes. Within the last few years, scientists have identified the OCA2 gene as a major player in determining eye color. OCA2 is a key gene that’s involved in determining how much melanin is made. Some versions of OCA2 cause lots of pigment to be made and lead to brown eyes.
What would happen if the OCA2 was completely turned off?
If the OCA2 gene had been completely shut down, our hair, eyes and skin would be melanin-less, a condition known as albinism.
What does the OCA2 gene have to do with receiving a blue eye trait?
The OCA2 gene (formerly called the P gene) provides instructions for producing the P protein located in the melanocytes (specialized cells that produce melanin). If more protein is produced, then the eyes received more melanin, and eye color leans toward the brown end of the color spectrum.