SALL1 Antibody (N-Term) Blocking Peptide

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]

SALL1: Transcriptional repressor involved in organogenesis. Defects in SALL1 are the cause of Townes-Brocks syndrome (TBS). TBS is a rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss. Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS and bronchio-oto-renal syndrome. Clinical features include dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, hypospadias, and mild developmental delay. Affected individuals lack the characteristic anal or hand malformations of TBS. Belongs to the sal C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: C2H2-type zinc finger protein; Transcription factor

Chromosomal Location of Human Ortholog: 16q12.1

Cellular Component: chromocenter; cytoplasm; heterochromatin; nucleoplasm; nucleus; NuRD complex

Molecular Function: beta-catenin binding; histone deacetylase activity; protein binding; sequence-specific DNA binding; transcription factor activity

Biological Process: adrenal gland development; embryonic digit morphogenesis; embryonic gut development; gonad development; heart development; inductive cell-cell signaling; kidney development; limb development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; neurogenesis; olfactory bulb interneuron differentiation; olfactory nerve development; outer ear morphogenesis; pituitary gland development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of Wnt receptor signaling pathway; somatic stem cell maintenance; ureteric bud branching; ureteric bud development

Disease: Townes-brocks Syndrome