SOX18 SRY-box transcription factor 18
Gene ID: 54345, updated on 5-Mar-2024Gene type: protein coding
Also known as: HLTS; HLTRS
- See all available tests in GTR for this gene
- Go to complete Gene record for SOX18
- Go to Variation Viewer for SOX18 variants
Summary
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]
Associated conditions
Genomic context
- Location:
- 20q13.33
- Sequence:
- Chromosome: 20; NC_000020.11 (64047582..64049639, complement)
- Total number of exons:
- 2
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for SOX18 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SOX18 database
- Variation ViewerRelated Variants
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