WDR11

• 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.

Human genetics

• Mutations in WDR11 have been shown to cause normosmic congenital hypogonadotropic hypogonadism and Kallmann syndrome (Kim, Ahn et al. 2010).

References

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.