SOX18

Chr 20

SRY-box transcription factor 18

Also known as: HLTRS, HLTS

NCBI Gene: 54345 ENSG00000203883 UniProt: P35713

SOX18 encodes a transcription factor that activates genes essential for embryonic cardiovascular development, lymphangiogenesis, and hair development by binding to specific promoter sequences. Mutations cause hypotrichosis-lymphedema-telangiectasia syndrome, with or without renal defects, characterized by sparse hair, lymphatic abnormalities, and dilated blood vessels. The condition follows both autosomal recessive and autosomal dominant inheritance patterns.

ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypotrichosis-lymphedema-telangiectasia syndrome

UniProtHypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.05

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429