Gene: GPR143

Alternate names for this Gene: NYS6|OA1

Gene 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. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2

Description of this Gene: G protein-coupled receptor 143

Type of Gene: protein-coding

Gene: LOC105373126

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs62635045 in GPR143;LOC105373126 gene and Albinism PMID 8634705 1995 Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

rs62635045 in GPR143;LOC105373126 gene and Ocular albinism, type I PMID 11214907 2001 Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

PMID 9529334 1998 OA1 mutations and deletions in X-linked ocular albinism.

PMID 18697795 2008 The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.

PMID 16621890 2006 An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1.

PMID 18978956 2008 Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

PMID 17822861 2007 New mutations identified in the ocular albinism type 1 gene.

PMID 16646960 2006 Eight previously unidentified mutations found in the OA1 ocular albinism gene.

PMID 17960122 2007 Identification of two novel mutations in families with X-linked ocular albinism.

PMID 11115845 2000 Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

PMID 9887374 1999 X-linked ocular albinism: prevalence and mutations--a national study.

PMID 8634705 1995 Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

PMID 16524428 2006 The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor.