Gene Symbol | SALL1 |
Entrez Gene ID | 6299 |
Full Name | spalt like transcription factor 1 |
Synonyms | HEL-S-89,HSAL1,Sal-1,TBS,ZNF794 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Townes-Brocks syndrome 1, 107480 (3); Townes-Brocks branchiootorenal-like syndrome, 107480 (3) |