H139Hfs13* PPM1K does not dephosphorylate BCKDH

Stable Identifier
R-HSA-9912527
Type
Reaction [transition]
Species
Homo sapiens
Compartment
mitochondrial matrix
ReviewStatus
5/5
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H139Hfs13* PPM1K does not dephosphorylate BCKDH
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A mild variant of Maple Syrup Urine disease has been identified in patient with a frameshift mutation in the BCKDH phosphatase PPM1K. H139Hfs13* PPM1K is destabilized as a result of premature truncation at residue 151 and is the presumptive cause of clinical phenotypes manifested by the patient (Oyarzabal et al, 2012).
Literature References
PubMed ID Title Journal Year
23086801 A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease

Oyarzabal, A, Martínez-Pardo, M, Merinero, B, Navarrete, R, Desviat, LR, Ugarte, M, Rodríguez-Pombo, P

Hum Mutat 2013
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Catalyst Activity

protein serine/threonine phosphatase activity of H139Hfs13* PPM1K:Mn2+ [mitochondrial matrix]

Physical Entity
H139Hfs13* PPM1K:Mn2+ [mitochondrial matrix] (Homo sapiens)
Activity
protein serine/threonine phosphatase activity (GO:0004722)
Normal reaction
PPM1K dephosphorylates p-BCKDH (Homo sapiens)
Functional status

Loss of function of H139Hfs13* PPM1K:Mn2+ [mitochondrial matrix]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
maple syrup urine disease DOID:9269 dihydrolipoamide dehydrogenase deficiency
Cross References
Mondo
Authored
Rothfels, K  (2024-07-29)
Reviewed
D'Eustachio, P  (2024-08-18)
Created
Rothfels, K  (2024-06-08)
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