The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.5 µg/ml.
Use a concentration of 1 µg/ml. Predicted molecular weight: 140 kDa.
功能Transcriptional repressor involved in organogenesis.
组织特异性Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.
疾病相关Defects in SALL1 are the cause of Townes-Brocks syndrome (TBS) [MIM:107480]. 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.
序列相似性Belongs to the sal C2H2-type zinc-finger protein family. Contains 9 C2H2-type zinc fingers.
发展阶段In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle.