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.

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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

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Release 2023.1 (January 2023)