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Literature summary for 3.4.21.108 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
Search for more literature for 3.4.21.108

Application

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

Protein Variants

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

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens O43464
-
-

Synonyms

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