SALL1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene.[5][6] As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.
AliasesSALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1, spalt like transcription factor 1
External IDsOMIM: 602218; MGI: 1889585; HomoloGene: 2230; GeneCards: SALL1; OMA:SALL1 - orthologs
Function
The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase (HDAC) complex.[5]
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.[5]