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SIX1 May be involved in limb tendon and ligament development. Defects in SIX1 are the cause of deafness autosomal dominant type 23 (DFNA23). A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. Defects in SIX1 are the cause of branchiootic syndrome type 3 (BOS3). BOS3 is a syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies are as those seen in individuals with the branchiootorenal syndrome. However, renal anomalies are absent in branchiootic syndrome patients. Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). 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. Note: This description may include information from UniProtKB.
Protein type: Cell development/differentiation; DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 14q23.1
Cellular Component: nucleolus; nucleus; transcription factor complex
Molecular Function: DNA binding; protein binding; sequence-specific DNA binding; transcription factor activity
Biological Process: embryonic cranial skeleton morphogenesis; embryonic skeletal morphogenesis; epithelial cell differentiation; generation of neurons; induction of an organ; inner ear development; inner ear morphogenesis; kidney development; myoblast migration; negative regulation of neuron apoptosis; pattern specification process; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of neuron differentiation; regulation of transcription, DNA-dependent; skeletal muscle development; thymus development; thyroid gland development; ureteric bud branching; ureteric bud development
Disease: Branchiootic Syndrome 3; Branchiootorenal Syndrome 1; Deafness, Autosomal Dominant 23
Reference #:  Q15475 (UniProtKB)
Alt. Names/Synonyms: BOS3; DFNA23; Homeobox protein SIX1; Sine oculis homeobox homolog 1; SIX homeobox 1; SIX1; TIP39
Gene Symbols: SIX1
Molecular weight: 32,210 Da
Basal Isoelectric point: 9.24  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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