• SOX10 (PTR1346) mouse mAb
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Upingbio

YP-Ab-18097-53UL

SOX10 (PTR1346) mouse mAb

SOX10 (PTR1346) mouse mAb

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Size
  • Reaction species: Human;Mouse;Rat;
  • Gene Name: SOX10
  • Molecular weight (DA): 49kD
  • Immunogen: Synthesized peptide derived from human protein AA range:1-100
  • Specificity: This antibody detects endogenous levels of SOX10.
  • Composition: PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
  • Source: Mouse, Monoclonal/IgG1, kappa
  • Dilution ratio: WB 1:500-2000. IF 1:100-500. ELISA 1:1000-5000
  • Purification process: Protein G
  • Concentration: mg/ml
  • Storage: -15°C to -25°C/1 year(Do not lower than -25°C)
  • Other Names: DOM; WS4; PCWH; WS2E; WS4C; SOX-10
  • 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],
  • Function: disease: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
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