SKU: WM1373 Categories: ,

SOX10 [PTR1346] mouse mAb

Price range: $268.00 through $328.00

SKU: WM1373-50
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Product details

Background:
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008],

Specifications

Size50μL/100μL
TargetSOX10
ReactivityHuman, Mouse, Rat
ApplicationsWB, IF, ELISA
MW(Calculated)49kD
MW(Observed)60kD
Host SpeciesMouse
IsotypeIgG1,Kappa
Conjugate/ModificationUnmodified
Recommended Dilution RatioWB 1:500-2000; IF 1:100-500; ELISA 1:1000-5000
FormulationPBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
PurificationRecombinant Antibody expressed in animal component-free (ACF) media, purified via Protein G affinity chromatography.
Storage-15°C to -25°C/1 year(Do not lower than -25°C)
Concentration
ClonalityMonoclonal
Clone NumberRMMR1346
ImmunogenSynthesized peptide derived from human protein AA range:1-100
SpecificityThis antibody detects endogenous levels of SOX10.
Gene NameSOX10
Protein NameTranscription factor SOX-10
Other NameDOM; / WS4; / PCWH; / WS2E; / WS4C; / SOX-10
SpeciesHuman
Gene ID6663
UniprotP56693,
Species.1Mouse
Gene ID.1
Uniprot.1Q04888,
Species.2Rat
Gene ID.2
Uniprot.2O55170
Cellular LocalizationNuclear
Tissue ExpressionExpressed in fetal brain and in adult brain, heart, small intestine and colon.
Signaling_pathway
Research Areas
FunctionDisease:Defects in SOX10 are a cause of Waardenburg syndrome type 4 (WS4) [MIM:277580]; also known as Waardenburg-Shah syndrome. WS4 is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).,Disease:Defects in SOX10 are a cause of Yemenite deaf-blind hypopigmentation syndrome [MIM:601706]. The disorder consists of cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss. Another case observed in a girl with similar skin symptoms and hearing loss but without microcornea or coloboma is reported as a mild form of this syndrome.,Disease:Defects in SOX10 are the cause of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]; also called neurologic variant of Waardenburg-Shah syndrome. PCWH is a rare, complex and more severe neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.,Disease:Defects in SOX10 are the cause of Waardenburg syndrome type 2E (WS2E) [MIM:611584]. WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.,Function:Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia.,similarity:Contains 1 HMG box DNA-binding domain.,tissue specificity:Expressed in fetal brain and in adult brain, heart, small intestine and colon.,
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