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Literature summary extracted from

  • Bogaerts, V.; Nuytemans, K.; Reumers, J.; Pals, P.; Engelborghs, S.; Pickut, B.; Corsmit, E.; Peeters, K.; Schymkowitz, J.; De Deyn, P.P.; Cras, P.; Rousseau, F.; Theuns, J.; Van Broeckhoven, C.
    Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease (2008), Hum. Mutat., 29, 832-840.
    View publication on PubMed

Application

EC Number Application Comment Organism
3.4.21.108 medicine mutations of the OMI/HTRA2 gene are linked to Parkinsons disease Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.4.21.108 A141S missense mutation, mutation within the PDZ domain Homo sapiens
3.4.21.108 G399S missense mutation, mutation within the PDZ domain Homo sapiens
3.4.21.108 R404W mutation within the PDZ domain, inactive protein Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
3.4.21.108 cytosol N-truncated form is released into the cytosol upon apoptotic stimuli Homo sapiens 5829
-
3.4.21.108 mitochondrial intermembrane space
-
 Homo sapiens 5758
-
3.4.21.108 mitochondrion
-
 Homo sapiens 5739
-

Organism

EC Number Organism UniProt Comment Textmining
3.4.21.108 Homo sapiens O43464
-
-

Synonyms

EC Number Synonyms Comment Organism
3.4.21.108 high temperature requirement A2
-
 Homo sapiens
3.4.21.108 HtrA2
-
 Homo sapiens
3.4.21.108 Omi
-
 Homo sapiens
3.4.21.108 serine protease HtrA2
-
 Homo sapiens