NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
Uniprot Description
SIX5: Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'- TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter. Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3. Defects in SIX5 are the cause of branchiootorenal syndrome type 2 (BOR2). 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. Penetrance of BOR syndrome is high, although expressivity can be extremely variable. Belongs to the SIX/Sine oculis homeobox family.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 19q13.32
Cellular Component: cytoplasm; nucleus
Molecular Function: protein binding
Biological Process: lens development in camera-type eye; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; spermatid development; transcription, DNA-dependent
Disease: Branchiootorenal Syndrome 2
Research Articles on SIX5
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Product Notes
The Human, Mouse SIX5 six5 (Catalog #AAA9502312) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9502312 ELISA Kit recognizes Human, Mouse SIX5. It is sometimes possible for the material contained within the vial of "SIX5, 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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