Full name: SRY-box transcription factor 18

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HLTRS; HLTS

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]

Expression: Biased expression in fat (RPKM 25.4), kidney (RPKM 7.2) and 9 other tissues

Gene size: 2058bp

Exon count: 2