Gene: SALL1

Alternate names for this Gene: HEL-S-89|HSAL1|Sal-1|TBS|ZNF794

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q12.1

Description of this Gene: spalt like transcription factor 1

Type of Gene: protein-coding

rs1965024 in SALL1 gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

rs104894537 in SALL1 gene and TOWNES-BROCKS SYNDROME 1 PMID 14627694 2003 High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

rs104894537 in SALL1 gene and Townes syndrome PMID 9973281 1999 Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

PMID 16088922 2005 SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

rs1015438 in SALL1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.