SOX18 wt Allele

Preferred Label : SOX18 wt Allele;

NCIt synonyms : SRY (Sex Determining Region Y)-Box 18 wt Allele; HLTS;

NCIt 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.;

NCIt note : The SOX18 gene plays a role in hair, blood vessel, and lymphatic vessel development. (Entrez Gene);

GenBank Accession Number : AB033888;

Details

Origin ID

C79747;

UMLS CUI

C2699252;

OMIM relation
- Sry-box 18 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q13.33 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Maturation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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