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Literature summary extracted from

  • Strauss, K.M.; Martins, L.M.; Plun-Favreau, H.; Marx, F.P.; Kautzmann, S.; Berg, D.; Gasser, T.; Wszolek, Z.; Mueller, T.; Bornemann, A.; Wolburg, H.; Downward, J.; Riess, O.; Schulz, J.B.; Krueger, R.
    Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease (2005), Hum. Mol. Genet., 14, 2099-2111.
    View publication on PubMed

Application

EC Number Application Comment Organism
3.4.21.108 medicine heterozygous G399S mutation in Parkinson's disease patients, which is absent in healthy controls, a A141S polymorphism is associated with Parkinson's disease, both mutations result in defective activation of Omi/HtrA2 and mitochondrial dysfunction associated with altered mitochondrial morphology Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.4.21.108 expression in Escherichia coli BL21 Codon Plus (DE3)-RIL Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
3.4.21.108 cytoplasm
-
 Homo sapiens 5737
-
3.4.21.108 mitochondrion predominant localisation, enlarged mitochondria with disorganized cristae in mutant cells Homo sapiens 5739
-
3.4.21.108 additional information halo of Lewy bodies from patients with pathologically confirmed idiopathic Parkinson's disease Homo sapiens
-
-

Organism

EC Number Organism UniProt Comment Textmining
3.4.21.108 Homo sapiens
-
 518 Parkinson's disease patients
-

Purification (Commentary)

EC Number Purification (Comment) Organism
3.4.21.108 by glutathione-Sepharose beads Homo sapiens

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.4.21.108 brain stem sections and cortical slices from patients with pathologically confirmed idiopathic Parkinson's disease Homo sapiens
-
3.4.21.108 HEK-293 cell
-
 Homo sapiens
-
3.4.21.108 kidney from human embryos Homo sapiens
-
3.4.21.108 neuroblastoma cell
-
 Homo sapiens
-
3.4.21.108 SH-SY5Y cell
-
 Homo sapiens
-

Storage Stability

EC Number Storage Stability Organism
3.4.21.108 -20°C Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.4.21.108 PDZ-interacting peptides + H2O
-
 Homo sapiens ?
-
 ?
3.4.21.108 X-linked inhibitor of apoptosis protein + H2O BIR2 Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.4.21.108 Omi/HtrA2
-
 Homo sapiens