What chromosome is the GPR143 gene on?

What chromosome is the GPR143 gene on?

Bassi et al. (1995) mapped the GPR143 gene to chromosome Xp22. 3-p22. 2, approximately 20 kb on the telomeric side of the APXL gene (SHROOM2; 300103).

What causes human albinism?

The cause of albinism is a defect in one of several genes that produce or distribute melanin, the pigment that gives skin, eyes, and hair their coloring. The defect may result in the absence of melanin production or a reduced amount of melanin production.

What is ocular albinism?

Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina , which is the light-sensitive tissue at the back of the eye.

What does the GPR143 gene do?

Normal Function The GPR143 gene, also known as OA1, provides instructions for making a protein that is involved in the coloring (pigmentation) of the eyes and skin. This protein is made in the light-sensitive tissue at the back of the eye (the retina) and in skin cells.

What does the OCA2 gene do?

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.

Why do albino eyes shake?

Nystagmus (the back and forth movement of the eyes) as well as the lack of pigment in the iris and the retina are also contributing factors to our reduced vision, although to a lesser degree. The easiest way to understand how the lack of cones affects the vision of people with albinism is to turn on your television.

Where is the GPR143 gene located?

The GPR143 gene, also known as OA1, provides instructions for making a protein that is involved in the coloring (pigmentation) of the eyes and skin. This protein is made in the light-sensitive tissue at the back of the eye (the retina) and in skin cells.

What type of mutation is OCA2?

Oculocutaneous albinism The most common OCA2 mutation is a large deletion in the gene, which is found in many affected individuals of sub-Saharan African heritage. Other OCA2 gene mutations, including changes in single DNA building blocks (base pairs) and small deletions, are more common in other populations.

How is OCA2 caused?

OCA2 is caused by a mutation in the OCA2 gene (15q12-q13), encoding the OCA2 protein. The precise function of this protein is unknown, however, several studies have reported possible roles in the maintenance of proper intramelanosomal pH or the melanosomal structural matrix.

What is the splicing mutation in the GPR143 gene?

The mutation c.360+5G>T in the GPR143 gene was identified in this family. In conclusion, the present study identified the splicing mutation c.360+5G>T in the GPR143 gene in a Chinese family with Ocular albinism type 1 and successfully identified the site.

What does the GPR 143 gene do?

GPR143 G protein-coupled receptor 143 [ (human)] Summary. This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms.

What does GPR143 stand for?

4935 – Gene ResultGPR143 G protein-coupled receptor 143 [ (human)] This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms.

Does the GPR143 gene cause age-related macular degeneration?

Pathogenic variants in the GPR143 gene may disturb the normal melanogenesis in the pigmented tissues of the eye, result in macular hypoplasia, and alter the thickness of the iris. reduced signaling of GPR143 may be a potential contributor to age-related macular degenerationpathogenesis [review]