Aliases for SALL1 Gene
External Ids for SALL1 Gene
Previous HGNC Symbols for SALL1 Gene
Previous GeneCards Identifiers for SALL1 Gene
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]
GeneCards Summary for SALL1 Gene
SALL1 (Spalt Like Transcription Factor 1) is a Protein Coding gene. Diseases associated with SALL1 include Townes-Brocks Syndrome and Imperforate Anus. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Transcriptional regulation of pluripotent stem cells. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and beta-catenin binding. An important paralog of this gene is SALL3.
UniProtKB/Swiss-Prot for SALL1 Gene
Transcriptional repressor involved in organogenesis.