SALL1
Developmental stage
In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle.
Function
Transcriptional repressor involved in organogenesis. Plays an essential role in ureteric bud invasion during kidney development.
Involvement in disease
Townes-Brocks syndrome 1
TBS1
A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease.
None
The disease is caused by variants affecting the gene represented in this entry. Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS1 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 TBS1.
Sequence Similarities
Belongs to the sal C2H2-type zinc-finger protein family.
Tissue Specificity
Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.
Cellular localization
- Nucleus
Alternative names
SAL1, ZNF794, SALL1, Sal-like protein 1, Spalt-like transcription factor 1, Zinc finger protein 794, Zinc finger protein SALL1, Zinc finger protein Spalt-1, HSal1, Sal-1