Rabbit SALL1 Polyclonal Antibody | anti-SALL1 antibody
SALL1 Antibody (N-term)
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.
Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :
Ramdas, W.D., et al. PLoS Genet. 6 (6), E1000978 (2010) :
Lu, J., et al. PLoS ONE 4 (5), E5577 (2009) :
de Celis, J.F., et al. Int. J. Dev. Biol. 53 (8-10), 1385-1398 (2009) :
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
SALL1: Transcriptional repressor involved in organogenesis. Defects in SALL1 are the cause of Townes-Brocks syndrome (TBS). TBS is a rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss. Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS 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 TBS. Belongs to the sal C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: C2H2-type zinc finger protein; Transcription factor
Chromosomal Location of Human Ortholog: 16q12.1
Cellular Component: heterochromatin; cytoplasm; NuRD complex; nucleus; chromocenter
Molecular Function: protein binding; DNA binding; metal ion binding; beta-catenin binding; chromatin binding; histone deacetylase activity; transcription factor activity
Biological Process: limb development; hindlimb morphogenesis; gonad development; positive regulation of transcription, DNA-dependent; heart development; negative regulation of transcription from RNA polymerase II promoter; olfactory nerve development; olfactory bulb interneuron differentiation; inductive cell-cell signaling; forelimb morphogenesis; ureteric bud development; kidney development; positive regulation of Wnt receptor signaling pathway; embryonic gut development; transcription, DNA-dependent; adrenal gland development; outer ear morphogenesis; histone deacetylation; pituitary gland development; ureteric bud branching; negative regulation of smoothened signaling pathway; neural tube closure; positive regulation of transcription from RNA polymerase II promoter; embryonic digit morphogenesis; negative regulation of transcription, DNA-dependent; positive regulation of neuron differentiation
Disease: Townes-brocks Syndrome
Research Articles on SALL1
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Product Notes
The SALL1 sall1 (Catalog #AAA9203689) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 11-40. The SALL1 Antibody (N-term) reacts with Human (Predicted Reactivity: Mouse) and may cross-react with other species as described in the data sheet. AAA Biotech's SALL1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), ELISA (EIA). WB~~1:1000. Researchers should empirically determine the suitability of the SALL1 sall1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "SALL1, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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