SASH1 SAM and SH3 domain containing 1
Gene ID: 23328, updated on 3-Apr-2024Gene type: protein coding
Also known as: DUH; DUH1; CAPOK; SH3D6A; dJ323M4.1
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- Go to complete Gene record for SASH1
- Go to Variation Viewer for SASH1 variants
Summary
This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study for diabetic nephropathy genes in African Americans. GeneReviews: Not available | |
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. GeneReviews: Not available | |
| Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | See labs |
| Common genetic variation and the control of HIV-1 in humans. GeneReviews: Not available | |
| Dyschromatosis universalis hereditaria 1 | See labs |
| Genome-wide association study of smoking behaviours among Bangladeshi adults. GeneReviews: Not available | |
| Genome-wide scan of copy number variation in late-onset Alzheimer's disease. GeneReviews: Not available |
Genomic context
- Location:
- 6q24.3-q25.1
- Sequence:
- Chromosome: 6; NC_000006.12 (148193468..148552044)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SASH1 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
- Variation ViewerRelated Variants
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