Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ABCA4

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ABCA4

Definition : Molecular assay reagents intended to identify mutations in the ATP-binding cassette, subfamily A (ABC1), member 4 (ABCA4) gene, located at chromosome 1p22.1-p21, which encodes for a membrane-associated protein that is a member ATP-binding cassette (ABC) transporter. ABC proteins transport various molecules across extra- and intracellular membranes. Mutations at this locus have been identified in patients with retinitis pigmentosa type 19 (RP19), Stargardt's disease, and age-related macular degeneration.

Entry Terms : "ABCA4 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, ABCA4"

UMDC code : 24275

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