SALL1 blocking peptide
SALL1 Immunizing Peptide
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: Transcription factor; C2H2-type zinc finger protein
Chromosomal Location of Human Ortholog: 16q12.1
Cellular Component: chromocenter; cytoplasm; heterochromatin; nucleoplasm; nucleus; NuRD complex
Molecular Function: beta-catenin binding; DNA binding; histone deacetylase activity; metal ion binding; protein binding; sequence-specific DNA binding; transcription factor activity
Biological Process: adrenal gland development; embryonic digit morphogenesis; embryonic gut development; gonad development; heart development; histone deacetylation; inductive cell-cell signaling; kidney development; limb development; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; neurogenesis; olfactory bulb interneuron differentiation; olfactory nerve development; outer ear morphogenesis; pituitary gland development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of Wnt receptor signaling pathway; somatic stem cell maintenance; transcription, DNA-dependent; ureteric bud branching; ureteric bud development
Disease: Townes-brocks Syndrome
Research Articles on SALL1
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Product Notes
The SALL1 sall1 (Catalog #AAA426558) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. The SALL1 Immunizing Peptide reacts with Human, Mouse and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: EKGQPSRPTK SKDAH-C. It is sometimes possible for the material contained within the vial of "SALL1, Blocking Peptide" 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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