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Information on EC 1.2.1.27 - methylmalonate-semialdehyde dehydrogenase (CoA-acylating) and Organism(s) Homo sapiens

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IUBMB Comments
Also converts 3-oxopropanoate into acetyl-CoA . The reaction occurs in two steps with the decarboxylation process preceding CoA-binding . Bicarbonate rather than CO2 is released as a final product .
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Homo sapiens
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Word Map
The taxonomic range for the selected organisms is: Homo sapiens
The enzyme appears in selected viruses and cellular organisms
Synonyms
msdh, mmsdh, methylmalonate semialdehyde dehydrogenase, odommsdh, momsdh, methylmalonic acid semialdehyde dehydrogenase, mmsadh, sso1218, methylmalonate semialdehyde dehydrogenase protein, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
methylmalonate semialdehyde dehydrogenase protein
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MMSDH
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
oxidation
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-
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redox reaction
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-
-
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reduction
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-
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SYSTEMATIC NAME
IUBMB Comments
2-methyl-3-oxopropanoate:NAD+ 3-oxidoreductase (CoA-propanoylating)
Also converts 3-oxopropanoate into acetyl-CoA [3]. The reaction occurs in two steps with the decarboxylation process preceding CoA-binding [3]. Bicarbonate rather than CO2 is released as a final product [3].
CAS REGISTRY NUMBER
COMMENTARY hide
37205-49-5
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SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
methylmalonate semialdehyde + CoA + H2O + NAD+
propanoyl-CoA + HCO3- + NADH
show the reaction diagram
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-
-
?
COFACTOR
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
MSDH malfunction can be a reason for 3-hydroxyisobutyric aciduria, which is a disorder of valine metabolism
metabolism
MSDH enzyme is part of the catabolism pathway of L-valine
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
MMSA_HUMAN
535
1
57840
Swiss-Prot
Mitochondrion (Reliability: 2)
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
P62S
missense mutation in a highly conserved amino acid of MSDH, patient has severe developmental delay associated with development of marked post-natal microcephaly, at 7 years static moderate learning difficulties and borderline microcephaly
S262Y
missense mutation in a highly conserved amino acid of MSDH, patient developed a febrile illness and died from a hepatoencephalopathy at 2 years of age
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Hatter, K.; Sokatch, J.R.
Purification of methylmalonate-semialdehyde dehydrogenase from Pseudomonas aeruginosa PAO
Methods Enzymol.
166
389-393
1988
Homo sapiens, Pseudomonas aeruginosa, Pseudomonas aeruginosa PAO
Manually annotated by BRENDA team
Kedishvili, N.Y.; Goodwin, G.W.; Popov, K.M.; Harris, R.A.
Mammalian methylmalonate-semialdehyde dehydrogenase
Methods Enzymol.
324
207-218
2000
Homo sapiens, Rattus norvegicus
Manually annotated by BRENDA team
Sass, J.O.; Walter, M.; Shield, J.P.; Atherton, A.M.; Garg, U.; Scott, D.; Woods, C.G.; Smith, L.D.
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
J. Inherit. Metab. Dis.
35
437-442
2012
Homo sapiens (Q02252), Homo sapiens
Manually annotated by BRENDA team