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

Gene: AKT3

Alternate names for this Gene: MPPH|MPPH2|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2

Gene Summary: The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described.

Gene is located in Chromosome: 1

Location in Chromosome : 1q43-q44

Description of this Gene: AKT serine/threonine kinase 3

Type of Gene: protein-coding

rs6429427 in SDCCAG8;AKT3 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs6429427 in SDCCAG8;AKT3 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs6429427 in SDCCAG8;AKT3 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs884328 in SDCCAG8;AKT3 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.