Entrez gene ID | | 7468 |
Official gene symbol | | WHSC1 |
Full name | | Wolf-Hirschhorn syndrome candidate 1 |
Aliases | | ,FLJ23286,KIAA1090,MGC176638,MMSET,NSD2,REIIBP,TRX5,WHS, |
Gene summary | | This gene encodes 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. [provided by RefSeq] |
Location | | Chromosome: 4 Locus: 4p16.3 |
Gene position | | 1873123 - 1983934 Map Viewer |
Gene orientation | | plus |
Gene size | | 110812 bp |
Gene sequence |
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OMIM ID | | 602952 |
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