Human sal-like 1 (Drosophila) ELISA Kit | SALL1 elisa kit
Human Sal-like protein 1, SALL1 ELISA Kit
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: 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; heart development; positive regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; olfactory bulb interneuron differentiation; olfactory nerve development; forelimb morphogenesis; inductive cell-cell signaling; ureteric bud development; kidney development; embryonic gut development; positive regulation of Wnt receptor signaling pathway; 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 Human SALL1 sall1 (Catalog #AAA9324263) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9324263 ELISA Kit recognizes Human SALL1. It is sometimes possible for the material contained within the vial of "sal-like 1 (Drosophila), ELISA Kit" 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
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