GO_REF:0000002
Gene Ontology annotation through association of InterPro records with GO terms
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000044
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
GO_REF:0000120
Combined Automated Annotation using Multiple IEA Methods
PMID:1346616
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
PMID:1978672
Primary structure and activity of mouse methylmalonyl-CoA mutase.
PMID:20031578
Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.
PMID:20876572
Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
PMID:21138732
Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein.
PMID:24458
Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats.
PMID:2453061
Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.
PMID:25125334
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
PMID:2567699
Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.
PMID:27167370
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
PMID:28101778
Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
PMID:28497574
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
PMID:28943303
Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation.
PMID:29056341
The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B(12).
PMID:32814053
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
PMID:33961781
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
PMID:34800366
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
PMID:40205054
Multimodal cell maps as a foundation for structural and functional genomics.
Reactome:R-HSA-3159259
MMAA:MUT binds AdoCbl
Reactome:R-HSA-3322135
Defective MMAA does not protect MUT
Reactome:R-HSA-3322971
Defective MUT does not isomerise L-MM-CoA to SUCC-CoA
Reactome:R-HSA-71010
MUT isomerises L-MM-CoA to SUCC-CoA