Gene: CEP170

Alternate names for this Gene: FAM68A|KAB|KIAA0470

Gene Summary: The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined.

Gene is located in Chromosome: 1

Location in Chromosome : 1q43

Description of this Gene: centrosomal protein 170

Type of Gene: protein-coding

Gene: SDCCAG8

Alternate names for this Gene: BBS16|CCCAP|CCCAP SLSN7|HSPC085|NPHP10|NY-CO-8|SLSN7|hCCCAP

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q43-q44

Description of this Gene: SHH signaling and ciliogenesis regulator SDCCAG8

Type of Gene: protein-coding

rs3897821 in CEP170;SDCCAG8 gene and Diastolic blood pressure PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.