SALL1 spalt like transcription factor 1
Gene ID: 6299, updated on 10-Oct-2024Gene type: protein coding
Also known as: TBS; HSAL1; Sal-1; ZNF794; HEL-S-89
- See all available tests in GTR for this gene
- Go to complete Gene record for SALL1
- Go to Variation Viewer for SALL1 variants
Summary
The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of optic disc parameters. GeneReviews: Not available | |
| Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. GeneReviews: Not available | |
| Townes-Brocks syndrome 1 | See labs |
| Weight loss after gastric bypass is associated with a variant at 15q26.1. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-01-27) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2021-01-27) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 16q12.1
- Sequence:
- Chromosome: 16; NC_000016.10 (51135982..51152334, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SALL1 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
- SALL1 database
- Variation ViewerRelated Variants
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