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 regulation of pluripotent stem cells and Developmental Biology. 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.