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Literature summary for 1.3.8.6 extracted from

  • Schmiesing, J.; Lohmoeller, B.; Schweizer, M.; Tidow, H.; Gersting, S.W.; Muntau, A.C.; Braulke, T.; Muehlhausen, C.
    Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture (2017), Hum. Mol. Genet., 26, 538-551 .
    View publication on PubMed

Application

Application Comment Organism
medicine studies of 18 missense mutations identified in glutaric aciduria type 1 patients affecting surface amino acids. The stability of half of the GCDH mutants is significantly reduced. None of the mutations impairs the 3D structure of GCDH. All GCDH mutants are correctly translocated into mitochondria Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information studies of 18 missense mutations identified in glutaric aciduria type 1 patients affecting surface amino acids. The stability of half of the GCDH mutants is significantly reduced. None of the mutations impairs the 3D structure of GCDH. All GCDH mutants are correctly translocated into mitochondria Homo sapiens
R88A expression of mutant results in the disruption of mitochondrial architecture forming longitudinal structures composed of stacks of cristae and partial loss of the outer mitochondrial membrane Homo sapiens
R88C expression of mutant results in the disruption of mitochondrial architecture forming longitudinal structures composed of stacks of cristae and partial loss of the outer mitochondrial membrane Homo sapiens
R88K expression of mutant results in the disruption of mitochondrial architecture forming longitudinal structures composed of stacks of cristae and partial loss of the outer mitochondrial membrane Homo sapiens
R88M expression of mutant results in the disruption of mitochondrial architecture forming longitudinal structures composed of stacks of cristae and partial loss of the outer mitochondrial membrane Homo sapiens
Y155H mutant exhibits a reduced interaction with dihydrolipoamide succinyl transferase Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion mitochondrial matrix Homo sapiens 5739
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Organism

Organism UniProt Comment Textmining
Homo sapiens Q92947
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