Entrez 6299 | Ensembl ENSG00000103449 | |
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Aliases SALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1, spalt like transcription factor 1 External IDs MGI: 1889585 HomoloGene: 2230 GeneCards: SALL1 | ||
Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene. As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.
Contents
Function
The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase (HDAC) complex.
Clinical significance
Defects in this gene are a cause of Townes–Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene.
Interactions
SALL1 has been shown to interact with TERF1 and UBE2I.
References
SALL1 Wikipedia(Text) CC BY-SA