Reagents, Molecular Assay, Gene Anomaly, Mutation, APTX
Definition : Molecular assay reagents intended to identify mutations in the aprataxin (APTX) gene, located at chromosome 9p13.3, which encodes for a member of the histidine triad (HIT) superfamily, whose members have nucleotide-binding and diadenosine polyphosphate hydrolase activities. This gene is probably involved in the repair of or response to DNA single-strand breaks. Mutations at this locus have been identified in patients with early-onset ataxia with oculomotor apraxia type 1 (AOA1) syndrome and hypoalbuminemia.
Entry Terms : "Ataxia with Oculomotor Apraxia Type 1 Gene Mutation Detection Reagents" , "APTX Gene Mutation Detection Reagents"
UMDC code : 24292