Camel General Transcription Factor II-I Repeat Domain-Containing Protein 1 (GTF2IRD1) ELISA Kit | GTF2IRD1 elisa kit
Camel General Transcription Factor II-I Repeat Domain-Containing Protein 1 (GTF2IRD1) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Uniprot Description
GTF2IRD1: May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8. GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Belongs to the TFII-I family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 7q11.23
Cellular Component: nucleoplasm; cytoplasm; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; DNA binding; transcription factor activity
Biological Process: regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; transition between slow and fast fiber
Disease: Williams-beuren Syndrome
Research Articles on GTF2IRD1
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Product Notes
The Camel GTF2IRD1 gtf2ird1 (Catalog #AAA9928343) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9928343 ELISA Kit recognizes Camel GTF2IRD1. It is sometimes possible for the material contained within the vial of "General Transcription Factor II-I Repeat Domain-Containing Protein 1 (GTF2IRD1), 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
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
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