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. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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.