SOX10

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]

SRY-box 10

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).

Biological Process anatomical structure morphogenesisManual Assertion Based On ExperimentTAS:ProtInc
Biological Process cell maturationIEA:Ensembl
Biological Process cellular response to progesterone stimulusIEA:Ensembl
Biological Process cellular response to xenobiotic stimulusIEA:Ensembl
Biological Process central nervous system myelinationISS:UniProtKB
Biological Process developmental growthIEA:Ensembl
Biological Process digestive tract morphogenesisIEA:Ensembl
Biological Process enteric nervous system developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process in utero embryonic developmentIEA:Ensembl
Biological Process lacrimal gland developmentIEA:Ensembl
Biological Process melanocyte differentiationIEA:Ensembl
Biological Process morphogenesis of a branching epitheliumIEA:Ensembl
Biological Process morphogenesis of an epitheliumManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of apoptotic processIEA:Ensembl
Biological Process negative regulation of canonical Wnt signaling pathwayIEA:Ensembl
Biological Process negative regulation of Schwann cell proliferationIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process neural crest cell migrationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process neuroblast proliferationIEA:Ensembl
Biological Process oligodendrocyte developmentISS:UniProtKB
Biological Process oligodendrocyte differentiationISS:UniProtKB
Biological Process peripheral nervous system developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of DNA-templated transcriptionISS:UniProtKB
Biological Process positive regulation of gene expressionIEA:Ensembl
Biological Process positive regulation of gliogenesisIEA:Ensembl
Biological Process positive regulation of myelinationIEA:Ensembl
Biological Process positive regulation of neuroblast proliferationIEA:Ensembl
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process transcription elongation by RNA polymerase II promoterIEA:Ensembl

Cytoplasm
Nucleus
Mitochondrion outer membrane

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.
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).
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.