Methylmalonyl-CoA mutase
Sign in to saveAlso known as mutant methylmalonyl CoA mutase, truncated methylmalonyl-CoA mutase variant c.1420C>T, methylmalonyl-CoA mutase c.*51C>G, truncated methylmalonyl-CoA mutase variant c.2179C>T, methylmalonyl-CoA mutase variant c.1495G>A, methylmalonyl-CoA mutase variant c.322C>T, methylmalonyl-CoA mutase variant c.643G>A, truncated methylmalonyl CoA mutase
mammalian protein found in Homo sapiens
Protein · UniProt
Methylmalonyl-CoA mutase, mitochondrial
- Gene
- MMUT
- Organism
- Homo sapiens (Human)
- Length
- 750 aa
- Molecular mass
- 83,134 Da
- Evidence
- 1: Evidence at protein level
Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle
Swiss-Prot (reviewed) · via UniProt
Research
896 papers- Bacteroides methylmalonyl-CoA mutase produces propionate that promotes intestinal goblet cell differentiation and homeostasis.Cell host & microbe · 2024
- Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.Nature metabolism · 2023
- Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.Nature communications · 2020
- New insights into the pathophysiology of methylmalonic acidemia.Journal of inherited metabolic disease · 2023
- Vitamin B(12) , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation.Journal of inherited metabolic disease · 2019
via PubMed
Clinical Trials
7 registered- PHASE1/PHASE2TERMINATEDA Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic AcidemiaModernaTX, Inc. · NCT04899310
- TERMINATEDNatural History Study of Patients With Methylmalonic Acidemia and Propionic AcidemiaHemoShear Therapeutics · NCT05438485
- NOT_YET_RECRUITINGA Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT GeneGenespire Srl · NCT07432880
- PHASE2TERMINATEDStudy of HST5040 in Subjects With Propionic or Methylmalonic AcidemiaHemoShear Therapeutics · NCT04732429
- PHASE1/PHASE2WITHDRAWNA Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of SEL-302 in Pediatric Subjects With MMASelecta Biosciences, Inc. · NCT05778877
- ENROLLING_BY_INVITATIONEarly Check: Expanded Screening in NewbornsRTI International · NCT03655223
Wikidata facts
- Instance of
- protein
Show 3 more facts
- exact match
- purl.uniprot.org/uniprot/P22033
- cell component
- mitochondrion
- found in taxon
- Homo sapiens
Sources (3)
via Wikidata · CC0