SKIC3 SKI3 subunit of superkiller complex
Gene ID: 9652, updated on 4-Jan-2025Gene type: protein coding
Also known as: Ski3; THES; TTC37; KIAA0372
- See all available tests in GTR for this gene
- Go to complete Gene record for SKIC3
- Go to Variation Viewer for SKIC3 variants
Summary
This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Trichohepatoenteric syndrome 1 | See labs |
Genomic context
- Location:
- 5q15
- Sequence:
- Chromosome: 5; NC_000005.10 (95463894..95554977, complement)
- Total number of exons:
- 43
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SKIC3 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
- TTC37 database
- Variation ViewerRelated Variants
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