2024年12月25日 · OCA2 (OCA2 Melanosomal Transmembrane Protein) is a Protein Coding gene. Diseases associated with OCA2 include Albinism, Oculocutaneous, Type Ii and Skin/Hair/Eye Pigmentation, Variation In, 1. Among its related pathways are Metabolism and Peptide chain elongation.

P蛋白 （P protein），又称 黑色素细胞特异性转运蛋白或粉眼稀释蛋白同源蛋白 （melanocyte-specific transporter protein or pink-eyed dilution protein homolog），是一种 蛋白质，在 人类 中是由 眼皮肤白化病II （oculocutaneous albinism II， OCA2） 基因 编码 [6]。

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. [5] . The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine —a precursor of melanin.

Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair.

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.

2025年2月8日 · Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...

Mutations in the gene OCA2 are responsible for oculocutaneous albinism type 2, but polymorphisms in and around OCA2 have also been associated with normal pigment variation. In Europeans, three haplotypes in the region have been shown to be ...

Tyrosinase-positive oculocutaneous albinism (OCA, type II; OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes.

2023年4月13日 · In oculocutaneous albinism (OCA), impaired melanin biosynthesis leads to hypopigmentation in the skin, hair, and eyes with characteristic ocular abnormalities; in ocular albinism (OA), only the visual pathway is clinically affected. The ophthalmic manifestations associated with albinism can include the following:

2023年12月20日 · The Oca2 gene, also known as the OCA2 gene, plays a crucial role in determining the pigmentation of an individual’s skin, hair, and eyes. It is responsible for the production of a protein called P protein, which is involved in the transportation of melanin, the pigment that gives color to these cells.