Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GPR143

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GPR143

Definition : Molecular assay reagents intended to identify mutations in the ocular albinism GPR143 (formerly OA1) gene, located at chromosome Xp22.3, which encodes for a protein that is involved in the coloring (pigmentation) of the eyes and skin. Mutations at this locus have been identified in patients with congenital (newborn) ocular albinism type 1 (also known as Nettleship-Falls type ocular albinism).

Entry Terms : "GPR143 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GPR143"

UMDC code : 24645

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