background:
Sall1 and Sall2 are mammalian homologs of the Drosophila region-specific home-otic gene spalt (sal), which encodes a zinc finger-containing transcription regulator. Drosophila spalt (sal) is an essential genetic component required for the specification of posterior head and anterior tail as opposed to trunk. Mammalian Sall1 may mediate higher order chromatin structure, and may be a component of a distinct heterochromatin-dependent silencing process. Sall1 is present in kidney, brain and liver. Sall2 is a p53-independent regulator of p21 and BAX, and can function in some cell types as a regulator of cell growth and survival. Human Sall2 is present in brain, heart, kidney or pancreas. Sall1 and Sall2 are expressed in different areas of the fetal brain that may represent distinct sets of neurons.
Function:
Transcriptional repressor involved in organogenesis.
Subunit:
Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2. Interacts with FAM58A. Probably associates with NuRD histone deacetylase complex (HDAC).
Subcellular Location:
Nucleus.
Tissue Specificity:
Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.
DISEASE:
Defects in SALL1 are the cause of Townes-Brocks syndrome (TBS) [MIM:10796]. TBS is a rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss.
Defects in SALL1 may cause a phenotype overlapping with TBS, similar to bronchio-oto-renal syndrome (BOR) [MIM:113650]. BOR is an autosomal dominant disorder, manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation.
Similarity:
Belongs to the sal C2H2-type zinc-finger protein family.
Contains 9 C2H2-type zinc fingers.
Database links:
Entrez Gene: 395446 Chicken
Entrez Gene: 6299 Human
Entrez Gene: 58198 Mouse
Omim: 602218 Human
SwissProt: Q9NSC2 Human
SwissProt: Q9ER74 Mouse
Unigene: 135787 Human
Unigene: 214361 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
