C79747Level 5
SOX18 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human SOX18 wild-type allele is located in the vicinity of 20q13.33 and is approximately 2 kb in length. This allele, which encodes transcription factor SOX-18 protein, is involved in the regulation transcription. Mutations in the gene are associated with hypotrichosis-lymphedema-telangiectasia syndrome.
**Synonyms:** - HLTS - SRY (Sex Determining Region Y)-Box 18 wt Allele
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Cross-system equivalences0
No cross-system equivalences mapped for this node.