Reagents, 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"
UMDC code : 24275