SIX5 Antibody – Rabbit Polyclonal

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: nucleoplasm; Golgi apparatus; intracellular membrane-bound organelle; cytoplasm

Molecular Function: protein binding; sequence-specific DNA binding

Biological Process: lens development in camera-type eye; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; spermatid development

Disease: Branchiootorenal Syndrome 2