SOX18 gene

SRY-box 18

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Binds to the consensus sequence 5'-AACAAAG-3' and is able to trans-activate transcription via this site.

From NCBI Gene:

  • Hypotrichosis-lymphedema-telangiectasia syndrome
  • Glomerulonephritis with sparse hair and telangiectases

From UniProt:

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS): A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. [MIM:607823]

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS): A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease. [MIM:137940]

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33

Molecular Location: base pairs 64,047,726 to 64,049,626 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33
  • HLTRS
  • HLTS