BAA94874.1
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NCBI Official Full Name
SOX18
UniProt Comments for SOX18
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; vasculature development; hair follicle 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
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