Aliases for SOX18 Gene
External Ids for SOX18 Gene
Previous GeneCards Identifiers 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-Box 18) is a Protein Coding gene. Diseases associated with SOX18 include Hypotrichosis-Lymphedema-Telangiectasia Syndrome and Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome. Among its related pathways are ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is SOX17.
UniProtKB/Swiss-Prot for SOX18 Gene
Binds to the consensus sequence 5-AACAAAG-3 and is able to trans-activate transcription via this site.