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Transcription factor that plays a central role in developing and mature glia. 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. Once induced, MYRF cooperates with SOX10 to implement the myelination program. Transcriptional activator of MITF, acting synergistically with PAX3. Transcriptional activator of MBP, via binding to the gene promoter.
Gene References into Functions
there have been a number of related reports that mutation of SOX10 will lead to Kallmann syndrome with deafness. PMID: 29726667
phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation. PMID: 28128317
Use of reliable positive and negative tissue controls is an important issue that must be addressed in any immunohistochemical staining reaction.4 SOX10 is a challenging marker in this sense, as no easy accessible tissues with consistent low-level expression have been identified at this time PMID: 28549040
High SOX10 expression is associated with Basal Breast Cancers. PMID: 28216417
Data show that depletion of SRY (sex determining region Y)-box 10 protein (SOX10) sensitizes mutant proto-oncogene proteins B-raf (BRAF) melanoma cells to RAF inhibitors in vitro and in vivo. PMID: 29295999
SOX10 immunohistochemistry may be of utility in distinguishing some of the varying adnexal tumors from each other, and from basal cell carcinoma (BCC), but given the staining of both apocrine and eccrine tumors, does not seem to provide information as to their origins as either eccrine or apocrine tumors. PMID: 28343365
Adenocarcinomas or adenomas derived from pigmented ciliary epithelium is distinguished from uveal melanoma by the absence of SOX10 expression and presence of the BRAF V600E mutation. PMID: 29059311
Therefore, the mutant cannot transactivate the MITF promoter effectively, inhibiting melanin synthesis and leading to WS2. Our study confirmed haploinsufficiency as the underlying pathogenesis for WS2. PMID: 28893539
Sox10 labeling is seen in a subset of metastatic triple-negative breast carcinomas, supporting its use as a marker of breast origin in this setting. PMID: 28843711
SOX10 is useful in the differential diagnosis of salivary gland neoplasms. PMID: 27327192
An extended immunohistochemical panel that includes beta-catenin and SOX10 helps to support the diagnosis of biphenotypic sinonasal sarcoma without the need for gene rearrangement studies. PMID: 27137987
found that all SOX10-NL-positive cells expressed an early neural crest marker NGFR, however SOX10-NL-positive cells purified from differentiated hiPS cells progressively attenuate their NL-expression under proliferation PMID: 28107504
The expression of the endogenous transcript is induced in a heterologous cell line by ectopically expressing SOX10, and is nearly ablated in Schwann cells by impairing SOX10 function. Intriguingly, overexpressing the two MTMR2 protein isoforms in HeLa cells revealed that both localize to nuclear puncta and the shorter isoform displays higher nuclear localization compared to the longer isoform PMID: 27466180
This study assesses MYB, CD117 and SOX-10 expression in cutaneous adnexal tumors. PMID: 28098399
Our zebrafish CHARGE model thus reveals important regulatory roles for Chd7 at multiple points of neural crest development viz., migration, fate choice and differentiation and we suggest that sox10 deregulation is an important driver of the neural crest-derived aspects of Chd7 dependent CHARGE syndrome. PMID: 27418670
Data indicate that transcription factors Sox10 and Olig2 play key roles in oligodendrocytes (OLs) specification. PMID: 27785726
SRY (sex determining region Y)-box 10 protein (SOX10) enhances nestin protein (NES) expression via directly binding to the promoter of NES. PMID: 28189679
mutation is associated with distinctive phenotypic profile (association of anosmia and chronic constipation with SOX10 mutations) PMID: 28390600
A low-level expression of Sox10 was significantly associated with high-level venous invasion by immunohistochemical evaluation, while it was significantly associated with high-level lymphatic permeation when analyzed by real-time PCR assay. PMID: 27943102
SOX10 expression is elevated in serum of melanoma and vitiligo patients as compared to controls. PMID: 27110718
Study provides evidence that the tumor suppressor Fbxw7alpha is the E3 ubiquitin ligase responsible for the degradation of SOX10, and suggests that reduced Fbxw7alpha might contribute to the upregulation of SOX10 in melanoma cells. PMID: 26461473
Sox10 is expressed in many ovarian carcinomas PMID: 26951260
we demonstrated that SOX10 is one of the most consistent markers of CD133+ stem-like ACC cells. Expression of SOX10 is also seen in other cancers, suggesting that they may contain similar stem-like cells. PMID: 27084744
Despite the fact that the E248fs has a dominant-negative effect on SOX10, its reduced stability may down-regulate the transcription of MITF and decrease the synthesis of melanin PMID: 27454999
SOX10-positivity rules out the diagnosis of ependymoma among other glial tumors with high confidence PMID: 26287936
SOX-10 expression is exclusively specific for all cases of metastatic melanoma. PMID: 25611246
This study demonstated that Shows no differences in expression level in ependymomas from Infants versus older children or amongiMolecular Subgroups. PMID: 26945037
SOX10 mutations can mimic non-syndromic hearing impairment. PMID: 25256313
our data imply that the same SOX10 mutations can underlie both typical Waardenburg syndrome and Kallmann Syndrome with deafness without skin/hair hypopigmentation, Hirschsprung disease, or neurological defects PMID: 26228106
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations. PMID: 26060192
Our result confirm the thesis that heterozygous deletions at SOX10 is an important pathogenicity for Waardenburg syndrome type II. PMID: 26296878
The use of SOX10 may increase the diagnostic accuracy of salivary gland oncocytic lesions on fine needle aspiration. PMID: 26619208
Study shows that by uncoupling the effects of gain-of-function and haploinsufficiency in vivo, the effect of PCWH-causing SOX10 mutation is solely pathogenic in each SOX10-expressing cellular lineage in a dosage-dependent manner. PMID: 25959061
Melanoma reprogramming involves thousands of genomic regulatory regions underlying the proliferative and invasive states, identifying SOX10/MITF and AP-1/TEAD as regulators, respectively. PMID: 25865119
Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. PMID: 25817900
Sox10 is superior to S100 in the differential diagnosis of schwannoma and meningioma. PMID: 25265429
reliable marker for detecting metastatic melanoma in sentinel lymph nodes PMID: 25356946
Loss of SOX10 is associated with digestive cancers. PMID: 25301735
we examined Sox10 expression in 5134 human neoplasms spanning a wide spectrum of neuroectodermal, mesenchymal, lymphoid, and epithelial tumors. PMID: 25724000
Results show that SRY could be expressed in tissues of Hirschsprung patients. It binds to the promoter of RET gene by competing with SOX10 for its interaction with PAX3 and NKX2-1 repressing their transcriptional expression and RET's as well. PMID: 25267720
Data indicate that SOX transcription factor SOX10 was expressed in 238 of 257 melanomas, including 50 of 51 of both spindle cell and desmoplastic melanomas. PMID: 25436903
SH3TC2 is regulated by the transcription factors CREB and SOX10, define a regulatory SNP at this disease-associated locus and reveal SH3TC2 as a candidate modifier locus of CMT disease phenotypes. PMID: 24833716
High SOX10 expression is associated with gangliocytic paraganglioma. PMID: 25562414
This study reports on three independent families with SOX10 mutations predicted to result in the same missense mutation at the protein level. PMID: 24845202
Sox10 (and Sox2) activate transcriptional elongation in Schwann cells by recruiting the positive transcription elongation factor b. PMID: 25524031
Decreases in Sox10 expression levels and a loss of Sox10(+) cells in both mouse and human aged ears suggests an important role of Sox10 in the maintenance of structural and functional integrity of the lateral wall. PMID: 24887110
haploinsufficiency of SOX10 may "unmask" subtler effects on expression or epistasis associated with variants in SOX10 targets (e.g., DHH), in its partners (e.g., PAX3, EGR2), and in genes with functional overlap (e.g., SOX8, SOX9). PMID: 24715709
The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome PMID: 24735604
SOX10 facilitates TCF4 to bind to beta-catenin and form a stable SOX10/TCF4/beta-catenin complex and trans-activate its downstream target gene in human hepatocellular carcinoma PMID: 25001176
SOX-10 is a relatively reliable marker for staining cutaneous myoepitheliomas. PMID: 24329979
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Involvement in disease
Waardenburg syndrome 2E (WS2E); Waardenburg syndrome 4C (WS4C); Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)