Entrez gene ID | | 8403 |
Official gene symbol | | SOX14 |
Full name | | SRY (sex determining region Y)-box 14 |
Aliases | | ,MGC119898,MGC119899,SOX28, |
Gene summary | | This intronless 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. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq] |
Location | | Chromosome: 3 Locus: 3q22-q23 |
Gene position | | 137483579 - 137484396 Map Viewer |
Gene orientation | | plus |
Gene size | | 818 bp |
Gene sequence |
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OMIM ID | | 604747 |