IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NSD1
Definition : Molecular assay reagents intended to identify mutations in the nuclear receptor binding SET domain protein 1 (NSD1) gene, located at chromosome 5q35.2-q35.3, which encodes for a protein whose exact function is unknown but is believed to regulate the transcription of genes involved in growth and development. Mutations at this locus have been identified in patients with Soto's syndrome and childhood acute myeloid leukemia.
Entry Terms : "Cerebral Gigantism Gene Mutation Reagents" , "Sotos Syndrome Gene Mutation Reagents" , "NSD1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, NSD1"
UMDC code : 24644