Anti-SOX10 Rabbit Monoclonal Antibody (RMAB-0251082)
Cat. No.: RMAB-0251082
Category: Primary Antibodies
INQUIRY
100 μL
Customer Size
Product Features
| Isotype | IgG |
|---|---|
| Clonality | Monoclonal |
| Host Species | Rabbit |
| Form | Liquid |
| Species Reactivity | Human, Mouse, Rat |
| Applications | WB, IF, ICC |
| Key Features | Bio Anti-SOX10 Rabbit Monoclonal Antibody. Tested in IF, WB applications. This antibody reacts with Human, Mouse, Rat. |
Target Information
| Target Symbol | SOX10 |
|---|---|
| Target Name | Transcription factor SOX-10 |
| UniProt ID | P56693 |
| 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. |
| Involvement in Disease | Defects in SOX1 are the cause of Waardenburg syndrome type 2E (WS2E). 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.Defects in SOX1 are a cause of Waardenburg syndrome type 4C (WS4C); also known as Waardenburg-Shah syndrome. WS4C 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).Defects in SOX1 are a cause of Yemenite deaf-blind hypopigmentation syndrome (YDBHS). YDBHS 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.Defects in SOX1 are the cause of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH); 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. |
Storage & Shipping
| Storage Buffer | Store at -20°C for one year. For short term storage and frequent use, store at 4°C for up to one month. Avoid repeated freeze-thaw cycles. |
|---|---|
| Storage & Shipping | Dry Ice |
For research use only. Not for clinical use.
