SOX10

SRY-box transcription factor 10

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000100146
UniProt:
P56693
OMIM:
602229
Synonyms:
DOM, SOX-10, WS2E, WS4

Ciliogenesis screen results (2 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Kallmann Syndrome

References: PMID:33597923, PMID:36138264, PMID:33913437

Subcellular localization

nucleus

Functional category

  • Ciliary assembly/disassembly
  • Neurogenesis & migration
  • Protein processing & maturation
  • Cell migration & adhesion
  • Transcription regulation

Function

Mutations in the SOX10 gene cause Kallmann syndrome (PMID: 33597923).