ANKS6 gene

ankyrin repeat and sterile alpha motif domain containing 6

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Required for renal function.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Nephronophthisis 16

From UniProt:

Nephronophthisis 16 (NPHP16): A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. [MIM:615382]

Cytogenetic Location: 9q22.33, which is the long (q) arm of chromosome 9 at position 22.33

Molecular Location: base pairs 98,732,009 to 98,796,542 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q22.33, which is the long (q) arm of chromosome 9 at position 22.33
  • ANKRD14
  • NPHP16
  • PKDR1
  • SAMD6