Aliases for SOX18 Gene
External Ids for SOX18 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. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]
GeneCards Summary for SOX18 Gene
SOX18 (SRY (Sex Determining Region Y)-Box 18) is a Protein Coding gene. Diseases associated with SOX18 include hypotrichosis-lymphedema-telangiectasia syndrome and yellow nail syndrome. Among its related pathways are ERK Signaling. GO annotations related to this gene include transcription regulatory region DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is SOX3.
UniProtKB/Swiss-Prot for SOX18 Gene
Binds to the consensus sequence 5-AACAAAG-3 and is able to trans-activate transcription via this site.