Entrez gene ID | | 54345 |
Official gene symbol | | SOX18 |
Full name | | SRY (sex determining region Y)-box 18 |
Aliases | | ,HLTS, |
Gene 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] |
Location | | Chromosome: 20 Locus: 20q13.33 |
Gene position | | 62680979 - 62679079 Map Viewer |
Gene orientation | | minus |
Gene size | | 1901 bp |
Gene sequence |
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OMIM ID | | 601618 |