epitope mapping near the N-terminus of NSD2 of human origin
recommended for detection of NSD2 of mouse, rat and human origin by WB, IF and ELISA; also reactive with additional species, including equine, canine, bovine, porcine and avian
NSD2 Background Information The WHSC1 gene encodes the NSD2 protein, which contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. The WHSC1 gene maps to the 165 kb WHS critical region, therefore implying that the gene may be responsible for several of the phenotypic features of WHS, such as mental retardation, microcephaly, seizures, hypotonia, cleft lip and/or palate, strabismus, hypertelorism, down-turned "fishlike" mouth, short upper lip and philtrum, small chin, ear tags or pits, and cranial asymmetry. NSD2 is expressed ubiquitously in rapidly growing embryonic tissues, a pattern which corresponds to affected organs in WHS patients. Alternative splicing of the WHSC1 gene results in multiple transcript variants encoding different isoforms of NSD2.
