SDCCAG8 gene

serologically defined colon cancer antigen 8

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

From NCBI Gene:

This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]

From UniProt:

Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). May play a role in ciliogenesis.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Senior-Loken syndrome 7
  • Bardet-Biedl syndrome 16
  • Bardet-Biedl syndrome

From UniProt:

Bardet-Biedl syndrome 16 (BBS16): A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. [MIM:615993]

Senior-Loken syndrome 7 (SLSN7): A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. [MIM:613615]

Cytogenetic Location: 1q43, which is the long (q) arm of chromosome 1 at position 43

Molecular Location: base pairs 243,255,328 to 243,500,092 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q43, which is the long (q) arm of chromosome 1 at position 43
  • BBS16
  • hCCCAP
  • HSPC085
  • NPHP10
  • NY-CO-8
  • SLSN7