OCA2 : OCA2 melanosomal transmembrane protein

Description

The OCA2 (OCA2 melanosomal transmembrane protein) is a protein-coding gene located on chromosome 15.

The OCA2 gene provides instructions for making the P protein, found in melanocytes, the cells responsible for producing melanin, the pigment that gives skin, hair, and eyes their color. While the exact function of the P protein is unknown, it is essential for normal pigmentation and is likely involved in melanin production. Within melanocytes, the P protein may transport molecules in and out of melanosomes, where melanin is produced, and may also help regulate the pH within these structures, which is crucial for many biological processes.

The OCA2 gene product, P protein, contributes to a melanosome-specific chloride ion current that regulates melanosomal pH. This regulation is crucial for optimal tyrosinase activity, which is essential for melanogenesis and melanosome maturation. P protein is a key component of the mammalian pigmentary system and may play a role in determining ethnic skin color variation. It is also a major determinant of brown and/or blue eye color. Additionally, P protein appears to regulate the post-translational processing of tyrosinase, the enzyme that catalyzes the rate-limiting step in melanin synthesis.

OCA2 is also known as BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing