sry-box-10 protein; transcription factor SOX-10 (sox10)

Function

• transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP
• may confer cell specificity to the function of other transcription factors in developing & mature glia (putative)

Structure

contains 1 HMG box DNA-binding domain

Compartment

cytoplasm, nucleus

Expression

• expressed in fetal brain & in adult brain, heart, small intestine & colon

Pathology

• defects in SOX10 are the cause of
  • Waardenburg syndrome type 2E
  • Waardenburg syndrome type 4
    • includes PCWH (neurologic variant)
  • Yemenite deaf-blind hypopigmentation syndrome

More general terms

• sox protein

Database

• UniProt: http://www.uniprot.org/uniprot/P56693.html
• OMIM: https://mirror.omim.org/entry/602229
• OMIM: https://mirror.omim.org/entry/277580
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6663
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6663