Structural highlights
Disease
[DDX59_HUMAN] Orofaciodigital syndrome type 14. The disease is caused by mutations affecting the gene represented in this entry.[1]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet. 2013 Sep 5;93(3):555-60. doi: 10.1016/j.ajhg.2013.07.012. Epub, 2013 Aug 22. PMID:23972372 doi:http://dx.doi.org/10.1016/j.ajhg.2013.07.012
