54345
20672
ENSG00000203883
ENSMUSG00000046470
P35713
P43680
NM_018419
NM_009236
NP_060889
NP_033262
Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[5][6]
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 (HLTS).[7][6] An autosomal truncating dominant mutation in this gene has also been associated with renal failure in the condition hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS).[8][9]
SOX18 has been shown to interact with:
MEF2C[10]
RBPJ[11]
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.
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