DISEASES

Disease-gene associations mined from literature

Literature associating SOX10 and Hirschsprung's disease

SOX10 [ENSP00000380093]

Transcription factor SOX-10; 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 .

Synonyms:  SOX10,  SOX10p,  hSOX10,  A0A024R1N6,  A0A494C0R1 ...

Linkouts:  STRING  Pharos  UniProt