Entrez Summary: This intronless 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 regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008].
UniProt Summary: Acts as a negative regulator of transcription. {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
HMG box
GO Terms
nuclear transcription factor complex
entrainment of circadian clock
regulation of neuron migration
regulation of circadian rhythm
visual perception
sensory perception of light stimulus
chromatin binding
sequence-specific DNA binding
cellular component
protein heterodimerization activity
regulation of neurogenesis
regulation of cell migration
negative regulation of transcription by RNA polymerase II
regulation of cell motility
regulation of nervous system development
regulation of cell development
sensory perception
regulation of locomotion
regulation of cellular component movement
negative regulation of transcription, DNA-templated
negative regulation of nucleic acid-templated transcription
negative regulation of RNA biosynthetic process
negative regulation of RNA metabolic process
nervous system process
negative regulation of cellular macromolecule biosynthetic process
negative regulation of nucleobase-containing compound metabolic process
negative regulation of macromolecule biosynthetic process
negative regulation of cellular biosynthetic process