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Literature summary extracted from

  • Jank, J.M.; Maier, E.M.; Reiss, D.D.; Haslbeck, M.; Kemter, K.F.; Truger, M.S.; Sommerhoff, C.P.; Ferdinandusse, S.; Wanders, R.J.; Gersting, S.W.; Muntau, A.C.
    The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase (2014), PLoS ONE, 9, e93852 .
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
1.3.8.7 medicine mutations in the ACADM gene identified in newborn lower the temperature threshold at which loss-of-function occurs. Increased temperature as it occurs during intercurrent infections, significantly increases the risk of further conformational derangement and loss of function of the enzyme, explaining the life-threatening clinical courses observed during fever episodes Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.8.7
-
 Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.7 A52V mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
1.3.8.7 D266G mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
1.3.8.7 K329E mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
1.3.8.7 R206C mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
1.3.8.7 R334K mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
1.3.8.7 R413S mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
1.3.8.7 Y158H mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
1.3.8.7 Y67H mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.3.8.7 Homo sapiens P11310
-
-

Temperature Stability [°C]

EC Number Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
1.3.8.7 44.5
-
 melting temperature, mutant Y158H Homo sapiens
1.3.8.7 50
-
 melting temperature, mutant R206C Homo sapiens
1.3.8.7 52
-
 melting temperature, mutant A52V Homo sapiens
1.3.8.7 52
-
 melting temperature, mutant R413S Homo sapiens
1.3.8.7 52.5
-
 melting temperature, mutant Y67H Homo sapiens
1.3.8.7 53.5
-
 melting temperature, mutant D266G Homo sapiens
1.3.8.7 53.5
-
 melting temperature, mutant R334K Homo sapiens
1.3.8.7 54
-
 melting temperature, mutant K329E Homo sapiens
1.3.8.7 56.5
-
 melting temperature, wild-type Homo sapiens