SOX18 Antibody – Rabbit Polyclonal

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]

SOX18: Binds to the consensus sequence 5'-AACAAAG-3' and is able to trans-activate transcription via this site. Defects in SOX18 are the cause of hypotrichosis- lymphedema-telangiectasia syndrome (HLTS).

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 20q13.33

Cellular Component: nuclear chromatin; nucleus

Molecular Function: protein heterodimerization activity

Biological Process: blood vessel endothelial cell migration; in utero embryonic development; positive regulation of transcription, DNA-dependent; cell maturation; stem cell fate specification; negative regulation of transcription from RNA polymerase II promoter; mRNA transcription from RNA polymerase II promoter; hair cycle process; hair follicle development; vasculature development; lymphangiogenesis; embryonic heart tube development; positive regulation of transcription from RNA polymerase II promoter; heart looping; angiogenesis; vasculogenesis; negative regulation of transcription, DNA-dependent

Disease: Hypotrichosis-lymphedema-telangiectasia Syndrome; Hypotrichosis-lymphedema-telangiectasia-renal Defect Syndrome