Molecular weight (DA)
75kD
Immunogen
The antiserum was produced against synthesized peptide derived from human SIX5. AA range:201-250
Specificity
Six5 Polyclonal Antibody detects endogenous levels of Six5 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000;IHC-p 1:50-300
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
caution:The region from 1 to 184 was deduced from the genomic sequence and ESTs.,developmental stage:At the begin of fourth week of development detected in cytoplasm of somite cells, and at the end of fourth week is accumulated in the nucleus. Between the sixth and eighth week of development detected in the nucleus of limb bud cells.,disease:Defects in SIX5 are the cause of branchiootorenal syndrome type 2 (BOR2) [MIM:610896]. 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, althou
Protein name
Homeobox protein SIX5
Other name
SIX5; DMAHP; Homeobox protein SIX5; DM locus-associated homeodomain protein; Sine oculis homeobox homolog 5
Human protein sequence Database
Q8N196
Mouse protein sequence database
P70178
Rat protein sequence database
Cellular localization
Cytoplasm . Nucleus .
Tissue expression
Expressed in adult but not in fetal eyes. Found in corneal epithelium and endothelium, lens epithelium, ciliary body epithelia, cellular layers of the retina and the sclera.
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