Aliases for SOX3 Gene
External Ids for SOX3 Gene
Previous HGNC Symbols for SOX3 Gene
Previous GeneCards Identifiers for SOX3 Gene
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 regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]
GeneCards Summary for SOX3 Gene
SOX3 (SRY-Box 3) is a Protein Coding gene. Diseases associated with SOX3 include Mental Retardation, X-Linked, With Panhypopituitarism and Panhypopituitarism, X-Linked. Among its related pathways are ERK Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II transcription corepressor activity. An important paralog of this gene is SOX1.
UniProtKB/Swiss-Prot for SOX3 Gene
Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity).