SOX14

SOX14

A gene on chromosome 3q22-q23 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which regulate embryonic development and determine cell fate. SOX14 may act as a transcription regulator after forming a complex with other proteins.

Molecular pathology
SOX14 mutations are associated with the limb defects occurring in blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome.
References in periodicals archive ?
For the FQA we selected 5 candidate regions, CDC42EP1, MGC15523, SOX14, SPN, and TBX3, which showed increased placental methylation and no methylation in maternal PBMCs (see online Supplemental Fig.
For the remaining 2 markers, SOX14 and TBX3, we measured copy numbers per milliliter of plasma that were below the quantitative range [mean (SD) 7 (5.
4] Human genes: TBX3, T-box 3, MGC15523, solute carrier family 38, member 10; SOX14, (sex determining region Y)-box 14; CDC42EP1, CDC42 effector protein (Rho GTPase binding) 1; SPN, sialophorin; ALB, albumin; APOE, apolipoprotein E; RNASEP, ribonuclease P; SRY, sex determining region Y; UTY, ubiquitously transcribed tetratricopeptide repeat gene, Y-linked; MGC15523, solute carrier family 38, member 10; LDHA, lactate dehydrogenase A; POP5, processing of precursor 5, ribonuclease P/MRP subunit; RASSF1A, Ras association (RalGDS/ AF-6) domain family member 1.