Sall1, which encodes a zinc finger protein, functions as a transcriptional repressor and interacts physically with histone deacetylase and other components of the chromatin remodeling NuRD complex. It is unknown whether the transcriptional repression is solely dependent on histone deacetylase activity. Gene expression profiling has identified Sall1 as a microglial signature gene. Microglia are the resident macrophages of the central nervous system (CNS). Sall1 is also expressed in abundance in the mesenchyme-derived structure from condensed mesenchyme, S-comma-shaped bodies, to renal tubules and podocytes. Sall1 has been identified as a key transcription factor in self-renewal renal progenitor cells. Sall1 is required to maintain the stemness of nephron progenitor cells by restraining their differentiation into renal vesicles. Defects in SALL1 are the cause of Townes-Brocks syndrome as well as bronchio-oto-renal syndrome. Heterozygous mutations of human SALL1 leading to Townes Brocks syndrome features dysplastic ears, preaxial polydactyly, imperforate anus, and less commonly, kidney and heart anomalies (Kohlhase et al. 1998). Two transcript variants encoding different isoforms have been found for this gene.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: epididymis secretory protein Li 89; HSal1; sal-3; sal-like 1; Sal-like protein 1; Spalt-like transcription factor 1; Zinc finger protein 794; Zinc finger protein SALL1; Zinc finger protein Spalt-1; zinc finger protein Spalt-3
Gene Aliases: HEL-S-89; HSAL1; Msal-3; Sal-1; SAL1; SALL1; TBS; ZNF794
UniProt ID: (Human) Q9NSC2