SOX10

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

• entrezGene:6663
• omim:602229
• swissprot:P56693

Target type

Proteins

Primary research area

Neuroscience

Other research areas

• Immuno-oncology

Molecular weight

49911Da