Disease-gene associations mined from literature

Literature associating HTRA1 and autosomal dominant osteopetrosis 1

HTRA1 [ENSP00000357980]

High-temperature requirement A serine peptidase 1; Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signaling mediated by TGF-beta family members. This activity requires the integrity of the catalytic site, although it is unclear whether TGF-beta proteins are themselves degraded. By acting on TGF-beta signaling, may regulate many physiological processes, including retinal angiogenesis and neuronal survival and maturation during development. Intracellularly, degrades TSC2, leading to the activation of TSC2 downstream targets; Belongs to the peptidase S1C family.

Synonyms:  HTRA1,  HTRA1p,  hHTRA1,  A8K224,  H0Y7G9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM