Aliases for SOX14 Gene
External Ids for SOX14 Gene
Previous GeneCards Identifiers for SOX14 Gene
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]
GeneCards Summary for SOX14 Gene
SOX14 (SRY (Sex Determining Region Y)-Box 14) is a Protein Coding gene. Diseases associated with SOX14 include moebius syndrome. Among its related pathways are ERK Signaling. GO annotations related to this gene include sequence-specific DNA binding and chromatin binding. An important paralog of this gene is SOX3.
UniProtKB/Swiss-Prot for SOX14 Gene
Acts as a negative regulator of transcription.