Structural highlights
Disease
[BICC1_HUMAN] Autosomal dominant polycystic kidney disease. Disease susceptibility is associated with variations affecting the gene represented in this entry.
Function
[BICC1_HUMAN] Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.[1]
References
- ↑ Kraus MR, Clauin S, Pfister Y, Di Maio M, Ulinski T, Constam D, Bellanne-Chantelot C, Grapin-Botton A. Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. Hum Mutat. 2012 Jan;33(1):86-90. doi: 10.1002/humu.21610. Epub 2011 Oct 31. PMID:21922595 doi:http://dx.doi.org/10.1002/humu.21610
