Variant: rs58933950 

    present in Gene: GPR143
    present in Chromosome: X
    Position on Chromosome: 9759332
    Alleles of this Variant: C/T

rs58933950 in GPR143 gene and Ocular albinism, type I PMID 16524428 2006 The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor.

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

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

PMID 11214907 2001 Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

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

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

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

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

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

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