Structural highlights
Disease
SALL4_HUMAN Acro-renal-ocular syndrome;IVIC syndrome;Okihiro syndrome due to 20q13 microdeletion;Okihiro syndrome due to a point mutation. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.
Function
SALL4_HUMAN Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.[1]
References
- ↑ Yang F, Yao Y, Jiang Y, Lu L, Ma Y, Dai W. Sumoylation is important for stability, subcellular localization, and transcriptional activity of SALL4, an essential stem cell transcription factor. J Biol Chem. 2012 Nov 9;287(46):38600-8. doi: 10.1074/jbc.M112.391441. Epub 2012 , Sep 25. PMID:23012367 doi:http://dx.doi.org/10.1074/jbc.M112.391441
