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Symbol HTRA1 contributors: mct/shn/pgu - updated : 26-06-2017
HGNC name HtrA serine peptidase 1
HGNC id 9476
corresponding disease(s) ARMD7 , CARASIL
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       loss of function
in tumor cell lines
constitutional     --over  
mRNA levels are elevated approximately 7-fold in cartilage from individuals with osteoarthritis compared with nonarthritic controls
constitutional     --over  
in dilated cardiomyopathy
constitutional     --over  
in osteoarthritic patients and as having the potential to regulate matrix metalloproteinase (MMP) expression in synovial fibroblasts through the generation of fibronectin fragments
constitutional     --over  
placental HTRA1 is significantly up-regulated in preeclampsia (PE) (significantly increased in early-onset PE, but significantly reduced in late-onset PE)
Susceptibility to age-macular dgeneration (AMD)
Variant & Polymorphism SNP , other
  • in the promoter region is a major genetic risk factor for wet AMD
  • polymorphism, rs11200638, is a strong candidate with a functional consequence that predisposes Japanese to develop neovascular AMD
  • HTRA1 expression is enhanced by AMD specific indel mutation in the promoter region of HTRA1 gene, and this enhanced HTRA1 may be concerned with induce retinal neovascularization , and AMD-associated silent polymorphisms in HTRA1 impair its ability to antagonize IGF1
  • Candidate gene
  • significant increase of serum HTRA1 in early-onset PE suggests that it may be a potential biomarker for the diagnosis of early-onset preeclampsia (PE) at disease presentation
  • Therapy target
    may represent a novel therapeutic target for the treatment of spinal disc degeneration