| UniProt Protein Function: | ANKS6: Required for renal function. 3 isoforms of the human protein are produced by alternative splicing.Chromosomal Location of Human Ortholog: 9q22.33Disease: Nephronophthisis 16 |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | Q68DC2 |
| NCBI GenInfo Identifier: | 83305683 |
| NCBI Gene ID: | 203286 |
| NCBI Accession: | Q68DC2.2 |
| UniProt Secondary Accession: | Q68DC2,Q5VSL0, Q5VSL2, Q5VSL3, Q5VSL4, Q68DB8, Q6P2R2 Q8N9L6, Q96D62, A0SE62 |
| UniProt Related Accession: | Q68DC2 |
| Molecular Weight: | 92,347 Da |
| NCBI Full Name: | Ankyrin repeat and SAM domain-containing protein 6 |
| NCBI Synonym Full Names: | ankyrin repeat and sterile alpha motif domain containing 6 |
| NCBI Official Symbol: | ANKS6Â Â |
| NCBI Official Synonym Symbols: | PKDR1; SAMD6; NPHP16; ANKRD14Â Â |
| NCBI Protein Information: | ankyrin repeat and SAM domain-containing protein 6 |
| UniProt Protein Name: | Ankyrin repeat and SAM domain-containing protein 6 |
| UniProt Synonym Protein Names: | Ankyrin repeat domain-containing protein 14; SamCystin; Sterile alpha motif domain-containing protein 6; SAM domain-containing protein 6 |
| Protein Family: | Ankyrin repeat and SAM domain-containing protein |
| UniProt Gene Name: | ANKS6Â Â |
| UniProt Entry Name: | ANKS6_HUMAN |
