- OMIM 606417
- Located at chromosome 10q26.12
- Encodes the WD repeat-containing protein 11, a member of the WD repeat-containing protein family. WD repeats are approximately 30- to 40-amino acid domains that are involved in protein-protein interactions.
- WDR11 comprises 29 exons and the corresponding mRNA( NM_018117.11) encodes a 1224 amino acid protein.
- Mutations in WDR11 have been shown to cause normosmic congenital hypogonadotropic hypogonadism and Kallmann syndrome (Kim, Ahn et al. 2010).
Kim, H. G., J. W. Ahn, et al. (2010). "WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome." Am J Hum Genet87(4): 465-479.