Structural highlights
Disease
CHD7_HUMAN CHARGE syndrome;Normosmic congenital hypogonadotropic hypogonadism;Omenn syndrome;Kallmann syndrome. The disease is caused by variants affecting the gene represented in this entry. Disease susceptibility is associated with variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
CHD7_HUMAN Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.[1]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
See Also
References
- ↑ Kita Y, Nishiyama M, Nakayama KI. Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L. Genes Cells. 2012 Jul;17(7):536-47. PMID:22646239 doi:10.1111/j.1365-2443.2012.01606.x
