New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
Albinism ocular type 1 (OA1) is an X-linked type of albinism that mainly effects pigment production in the eye, resulting in hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers, and reduced visual acuity. The OA1 gene is located on chromosome Xp22.32 and the coding sequence is divided into nine exons. The protein is an integral transmembrane protein that has weak similarities to G protein-coupled receptors. A total of 25 missense, two nonsense, nine frameshift, and five splicing mutations have been reported in the OA1 gene associated with OA1. There are also several deletions of some or all exons of the OA1 gene with deletions of exon 2 resulting from unequal crossing-over, due to flanking Alu repeats. Mutation and polymorphism data on this gene is available from the International Albinism Center - Albinism Database web site (http://www.cbc.umn.edu/tad).
Oetting
William S
WS
Department of Medicine and Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA.
D016117:Albinism, Ocular / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D030561:Databases, Nucleic Acid; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics
D005136:Eye Proteins; C095276:GPR143 protein, human; D008562:Membrane Glycoproteins; D022821:RNA Splice Sites