SDCCAG8 gene

SHH signaling and ciliogenesis regulator SDCCAG8

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). Plays also an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localization which is critical for ciliogenesis (PubMed:27224062).

Covered on Genetics Home Reference:

From NCBI Gene:

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

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-q44, which is the long (q) arm of chromosome 1 between positions 43 and 44

Molecular Location: base pairs 243,255,418 to 243,503,683 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 1q43-q44, which is the long (q) arm of chromosome 1 between positions 43 and 44
  • BBS16
  • hCCCAP
  • HSPC085
  • NPHP10
  • NY-CO-8
  • SLSN7