Rabbit anti-Human SOX10 Polyclonal Antibody

Uniprot Id

P56693

Target Species

Human

Target Name

SOX10

Target Full Name

Transcription factor SOX-10

Target Function

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.

Target Involvement

Waardenburg syndrome 2E (WS2E); Waardenburg syndrome 4C (WS4C); Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH)

Target Subcellular Location

Cytoplasm. Nucleus. Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side.

Target Tissue Specificity

Expressed in fetal brain and in adult brain, heart, small intestine and colon.

Target Synonyms

DOM; DOM; Dominant megacolon mouse human homolog of; MGC15649; PCWH; SOX 10; SOX10; SOX10_HUMAN; SRY (sex determining region Y) box 10; SRY (sex determining region Y) box 10; SRY box 10; SRY box containing gene 10; SRY related HMG box gene 10; SRY related HMG box gene 10; Transcription factor SOX 10; Transcription factor SOX-10; WS2E; WS4; WS4C

Target Background

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.