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 Isolated Growth Hormone Deficiency and Panhypopituitarism, X-Linked. Among its related pathways are Signaling by Wnt and ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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).