Deep intronic GPR143 mutation in a Japanese family with ocular albinism.
Tokushima, Japan. In Sci Rep, 2014
Although mutations or copy number alterations of coding regions were not identified in candidate genes, the novel intronic mutation c.659-131 T > G within GPR143 intron 5 was identified as hemizygous in affected siblings and as heterozygous in the unaffected mother.
Albinism in Europe.
Madrid, Spain. In J Dermatol, 2013
At least four forms of OCA and one of OA are known, associated with TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4) and GPR143 (OA1) loci, respectively.
Signaling pathways in melanosome biogenesis and pathology.
Milano, Italy. In Int J Biochem Cell Biol, 2010
Among the most relevant mechanisms operating in melanosome biogenesis are the signal transduction pathways mediated by two peculiar G protein-coupled receptors: the melanocortin-1 receptor (MC1R), involved in the fair skin/red hair phenotype and skin cancer; and OA1 (GPR143), whose loss-of-function results in X-linked ocular albinism.
Ocular Albinism, X-Linked
Seattle, United States. In Unknown Journal, 2004
Molecular genetic testing of GPR143(previously OA1) detects pathogenic variants in more than 90% of affected males.