BD-PN2034

SOX10 Rabbit Polyclonal Antibody

常规抗体

SOX10

Transcription factor SOX-10

WB

Human,Rat,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.

6663

P56693

https://www.uniprot.org/uniprotkb/P56693/entry

Q04888

http://www.uniprot.org/uniprot/Q04888

O55170

http://www.uniprot.org/uniprot/O54941O55170

Synthesized peptide derived from part region of human protein

SOX10 Polyclonal Antibody detects endogenous levels of protein.

WB 1:500-2000 ELISA 1:5000-20000

51kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

Expressed in fetal brain and in adult brain, heart, small intestine and colon.

Cytoplasm . Nucleus . Mitochondrion outer membrane ; Peripheral membrane protein ; Cytoplasmic side .

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 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.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.