Recombinant Human Transcription factor SOX-18 (SOX18)

Uniprot Id

P35713

Target Species

Human

Target Name

SOX18

Target Full Name

Transcription factor SOX-18

Target Function

Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis. Activates transcription of PROX1 and other genes coding for lymphatic endothelial markers. Plays an essential role in triggering the differentiation of lymph vessels, but is not required for the maintenance of differentiated lymphatic endothelial cells. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX17. Interaction with MEF2C enhances transcriptional activation. Besides, required for normal hair development.

Target Involvement

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS); Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Detected in heart, lung, placenta, skeletal muscle, liver, kidney, spleen, prostate, ovary, msosmall intestine and colon.

Target Synonyms

HLTS; SOX 18; Sox18; SOX18_HUMAN; SRY (sex determining region Y) box 18; SRY box 18; Transcription factor SOX 18; Transcription factor SOX-18

Target Background

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.