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 …

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 …

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) …

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 …

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 …

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 …

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. …

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 …

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 …