IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PHOX2B
Definition : Molecular assay reagents intended to identify mutations in the paired-like homeobox 2b (PHOX2B) gene, located at chromosome 4p12, which encodes for a DNA-associated protein and is a member of the paired family of homeobox proteins localized to the nucleus that function as transcription factors. Mutations at this locus have been identified in patients with congenital hypoventilation syndrome and predisposition to hereditary neuroblastoma.
Entry Terms : "Congenital Central Hypoventilation Syndrome Gene Mutation Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PHOX2B"
UMDC code : 24663