Aliases for ANKS6 Gene
External Ids for ANKS6 Gene
Previous HGNC Symbols for ANKS6 Gene
Previous GeneCards Identifiers for ANKS6 Gene
This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
GeneCards Summary for ANKS6 Gene
ANKS6 (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6) is a Protein Coding gene. Diseases associated with ANKS6 include Nephronophthisis 16 and Nephronophthisis 2, Infantile. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is KIDINS220.
UniProtKB/Swiss-Prot for ANKS6 Gene
Required for renal function.