Gene Symbol | ANKS6 |
Entrez Gene ID | 203286 |
Full Name | ankyrin repeat and sterile alpha motif domain containing 6 |
Synonyms | ANKRD14,NPHP16,PKDR1,SAMD6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Nephronophthisis 16, 615382 (3) |