SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8
Gene ID: 10806, updated on 5-Mar-2024Gene type: protein coding
Also known as: BBS16; CCCAP; SLSN7; NPHP10; hCCCAP; HSPC085; NY-CO-8; CCCAP SLSN7
- See all available tests in GTR for this gene
- Go to complete Gene record for SDCCAG8
- Go to Variation Viewer for SDCCAG8 variants
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. [provided by RefSeq, Oct 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bardet-Biedl syndrome MedGen: C0752166GeneReviews: Bardet-Biedl Syndrome Overview | See labs |
| Bardet-Biedl syndrome 16 | See labs |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. GeneReviews: Not available | |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available | |
| Genome-wide association study identifies five new schizophrenia loci. GeneReviews: Not available | |
| Genome-wide association study of selenium concentrations. GeneReviews: Not available | |
| GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. GeneReviews: Not available | |
| Senior-Loken syndrome 7 | See labs |
| Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. GeneReviews: Not available |
Genomic context
- Location:
- 1q43-q44
- Sequence:
- Chromosome: 1; NC_000001.11 (243256041..243500091)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SDCCAG8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SDCCAG8 @ LOVD
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.