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WHSC1 / NSD2 is a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences.
Gene Name: | Wolf-Hirschhorn syndrome candidate 1 |
Synonyms: | WHSC1, NSD2, KIAA1090, TRX5, WHS, Protein trithorax-5, MMSET, REIIBP |
Target Sequences: | NM_007331 NP_015627.1 O96028 |
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