SOX10
GeneName
SOX10
Summary
SOX10, also known as SOX-10, is a 50 kDa transcription factor that plays a vital role in the development and differentiation of various cell types, particularly in the neural crest and glial cells. It is expressed in tissues such as the central and peripheral nervous systems, where it is involved in processes like myelination and melanocyte differentiation. SOX10 is localised in the nucleus, nucleoplasm, and mitochondrial outer membrane, and functions primarily as a DNA-binding transcription activator, regulating gene expression through its interactions with specific DNA sequences. It is essential for the morphogenesis of anatomical structures and has a significant role in the cellular response to various stimuli, including progesterone and xenobiotics.
Importance
SOX10 is relevant to: - Myelination processes in the central nervous system and peripheral nervous system, influencing oligodendrocyte and Schwann cell development - Melanocyte differentiation and pigmentation, contributing to disorders such as Waardenburg syndrome - Neural crest cell migration, which is crucial for the development of various tissues and organs - Regulatory roles in transcription, impacting gene expression and cellular responses during embryonic development and tissue maturation
Top Products
For researchers investigating SOX10, we highly recommend the top-selling recombinant antibody, Anti-SOX10 antibody [EPR4007] (ab155279). This antibody has been validated in a variety of applications, including immunohistochemistry (IHC), immunocytochemistry (ICC), western blotting (WB), and flow cytometry (FC), making it a versatile tool for your research needs. With 124 citations, it is well-regarded in the scientific community, reflecting its reliability and effectiveness in SOX10 detection. This recombinant antibody ensures batch-to-batch consistency, providing confidence in your experimental results.
Abcam Product Citation Summary
The data indicates that SOX10 is being studied in various contexts, particularly in relation to differentiation processes in neural and glial cells. The use of different applications such as immunofluorescence and Western blotting across multiple species highlights the importance of SOX10 in developmental biology and disease contexts, including melanoma recurrence and myelin marker expression.
Abcam Product Citation Table
Domain
The transactivation domains TAM and TAC (for transactivation domain in the middle and at the C-terminus, respectively) are required to contact transcriptional coactivators and basal transcriptional machinery components and thereby induce gene transactivation.
Function
Transcription factor that plays a central role in developing and mature glia (By similarity). Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination (By similarity). Once induced, MYRF cooperates with SOX10 to implement the myelination program (By similarity). Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087). Transcriptional activator of MBP, via binding to the gene promoter (By similarity).
Involvement in disease
Waardenburg syndrome 2E
WS2E
An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Waardenburg syndrome 4C
WS4C
A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
None
The disease is caused by variants affecting the gene represented in this entry.
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease
PCWH
A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in fetal brain and in adult brain, heart, small intestine and colon.
Cellular localization
- Cytoplasm
- Nucleus
- Mitochondrion outer membrane
- Peripheral membrane protein
- Cytoplasmic side
Alternative names
Transcription factor SOX-10, SOX10
Database links
swissprot:P56693 omim:602229 entrezGene:6663
Other research areas
- Immuno-oncology