产品名称
SALL1 Rabbit Polyclonal Antibody
蛋白名称
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)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
Q9NSC2
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9NSC2/entry
Mouse Swissprot No.
Q9ER74
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9ER74
免疫原
Synthesized peptide derived from part region of human protein
特异性
SALL1 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.
功能
developmental stage:In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle.,disease:Defects in SALL1 are the cause of Townes-Brocks syndrome (TBS) [MIM:107840]. TBS is a rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss.,disease: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.,function:Transcriptional repressor involved in organogenesis.,similarity:Belongs to the sal C2H2-type zinc-finger protein family.,similarity:Contains 9 C2H2-type zinc fingers.,subunit:Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 (By similarity). Interacts with FAM58A. Probably associates with NuRD histone deacetylase complex (HDAC).,tissue specificity:Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
