TTC39B tetratricopeptide repeat domain 39B
Gene ID: 158219, updated on 28-Oct-2024Gene type: protein coding
Also known as: C9orf52
- See all available tests in GTR for this gene
- Go to complete Gene record for TTC39B
- Go to Variation Viewer for TTC39B variants
Summary
Predicted to be involved in several processes, including cholesterol homeostasis; negative regulation of cholesterol storage; and regulation of cholesterol efflux. [provided by Alliance of Genome Resources, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. GeneReviews: Not available | |
| A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available |
Genomic context
- Location:
- 9p22.3
- Sequence:
- Chromosome: 9; NC_000009.12 (15163622..15307216, complement)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TTC39B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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