Gene Symbol | SOX18 |
Entrez Gene ID | 54345 |
Full Name | SRY-box 18 |
Synonyms | HLTRS,HLTS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3); Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3) |