SOX14

Name

SRY-box transcription factor 14

Type

protein-coding

Position

137,764,315–137,766,334 (+)

Aliases

SOX28

Ensembl

ENSG00000168875

RefSeq RNA

NM_004189.4

RefSeq protein

NP_004180.1

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, Jul 2008].