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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus .
组织表达： Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.
科研货号： PLA007809
SALL1 Polyclonal Antibody
Catalog NoPLA007809
Product information
基因名称： SALL1 SAL1 ZNF794
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)
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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus .
组织表达： Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.
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