Rabbit anti-Human, Mouse SIX1 Polyclonal Antibody | anti-SIX1 antibody

SIX1 Rabbit Polyclonal

Cat. Num. AAA7604119

• Gene Names: SIX1; BOS3; TIP39; DFNA23
• Reactivity: Human, Mouse
• Applications: ELISA, Western Blot, Immunofluorescence, Immunoprecipitation
• Purity: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Synonyms: SIX1; Polyclonal Antibody; SIX1 Rabbit Polyclonal; anti-SIX1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 284

• Applicable Applications for anti-SIX1 antibody: ELISA (EIA), Western Blot (WB), Immunofluorescence (IF), Immunoprecipitation (IP)
• Immunogen: SIX homeobox 1
• Preparation and Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Western Blot (WB)

(A2780 cells were subjected to SDS PAGE followed by western blot with MBS7604119 (SIX1 antibody) at dilution of 1:800)

NCBI and Uniprot Product Information

• NCBI GI #: 1246761
• NCBI GeneID: 6495
• UniProt Accession #: Q15475; Q53Y16; Q96H64
• Molecular Weight: 32,210 Da
• NCBI Official Full Name: six1
• NCBI Official Synonym Full Names: SIX homeobox 1
• NCBI Official Symbol: SIX1
• NCBI Official Synonym Symbols: BOS3; TIP39; DFNA23
• NCBI Protein Information: homeobox protein SIX1
• UniProt Protein Name: Homeobox protein SIX1
• Protein Family: Homeobox protein
• UniProt Gene Name: SIX1
• UniProt Entry Name: SIX1_HUMAN

NCBI Description

The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]

Uniprot Description

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.

Protein type: DNA-binding; Transcription factor; Cell development/differentiation

Chromosomal Location of Human Ortholog: 14q23.1

Cellular Component: cytoplasm; nucleolus; nucleus; transcription factor complex

Molecular Function: chromatin binding; DNA binding; protein binding; sequence-specific DNA binding; transcription factor activity

Biological Process: apoptosis; cell proliferation; embryonic cranial skeleton morphogenesis; embryonic skeletal morphogenesis; epithelial cell differentiation; facial nerve morphogenesis; generation of neurons; induction of an organ; inner ear development; inner ear morphogenesis; kidney development; middle ear morphogenesis; myoblast migration; negative regulation of neuron apoptosis; negative regulation of transcription from RNA polymerase II promoter; neuron fate specification; olfactory placode formation; pattern specification process; pharyngeal system development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of epithelial cell proliferation; regulation of neuron differentiation; regulation of protein localization; regulation of satellite cell proliferation; regulation of synaptic growth at neuromuscular junction; regulation of transcription, DNA-dependent; sensory perception of sound; skeletal muscle development; thymus development; thyroid gland development; transcription from RNA polymerase II promoter; ureteric bud branching; ureteric bud development

Disease: Branchiootic Syndrome 3; Branchiootorenal Syndrome 1; Deafness, Autosomal Dominant 23