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    MMUT methylmalonyl-CoA mutase [ Homo sapiens (human) ]

    Gene ID: 4594, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MMUTprovided by HGNC
    Official Full Name
    methylmalonyl-CoA mutaseprovided by HGNC
    Primary source
    HGNC:HGNC:7526
    See related
    Ensembl:ENSG00000146085 MIM:609058; AllianceGenome:HGNC:7526
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCM; MUT
    Summary
    This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 48.6), kidney (RPKM 23.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MMUT in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (49430360..49463253, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49272390..49305330, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49398073..49430966, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 65 pseudogene Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 42 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:49354927-49355469 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:49430149-49431049 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:49431050-49431949 Neighboring gene centromere protein Q Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:49450846-49451350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:49451351-49451854 Neighboring gene glycine-N-acyltransferase like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17276

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). Underhill HR, et al. Pediatr Int, 2013 Dec. PMID 24330302
    2. Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl. Oyama C, et al. Pediatr Int, 2007 Apr. PMID 17445044
    3. Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria. Hubbard PA, et al. J Biol Chem, 2007 Oct 26. PMID 17728257
    4. Brain damage by mild metabolic derangements in methylmalonic acidemia. Lee NC, et al. Pediatr Neurol, 2008 Nov. PMID 18940555
    5. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. Wang F, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2009 Oct. PMID 19806564

    See all (113) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population.
      Title: Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population.
    2. Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
      Title: Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
    3. Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
      Title: Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
    4. A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
      Title: A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
    5. A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
      Title: A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
    6. Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase.
      Title: Naturally occurring cobalamin (B(12)) analogs can function as cofactors for human methylmalonyl-CoA mutase.
    7. Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.
      Title: Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.
    8. Our study identified a novel, deleterious, heterozygous missense mutation in MUT gene in a couple and helps to consider the genetic counselling and prenatal diagnosis more seriously for this family with clinical phenotypes of organic acidemia.
      Title: Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
    9. These data demonstrate durable functional benefit of hMUT mRNA and support development of this new class of therapy for a devastating, pediatric disorder.
      Title: Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia.
    10. Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation.
      Title: Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cobalamin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cobalamin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylmalonyl-CoA mutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylmalonyl-CoA mutase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylmalonyl-CoA mutase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables modified amino acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in homocysteine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in propionate metabolic process, methylmalonyl pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in succinyl-CoA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    methylmalonyl-CoA mutase, mitochondrial
    Names
    methylmalonyl Coenzyme A mutase
    methylmalonyl-CoA isomerase
    methylmalonyl-CoA mutase c.*192delA
    methylmalonyl-CoA mutase c.*51C>G
    methylmalonyl-CoA mutase variant c.1495G>A
    methylmalonyl-CoA mutase variant c.2011A>G
    methylmalonyl-CoA mutase variant c.2150G>T
    methylmalonyl-CoA mutase variant c.322C>T
    methylmalonyl-CoA mutase variant c.613_615delGAA
    methylmalonyl-CoA mutase variant c.636G>A
    methylmalonyl-CoA mutase variant c.643G>A
    mutant methylmalonyl CoA mutase
    NP_000246.2
    XP_005249200.1
    XP_054211495.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007100.1 RefSeqGene

      Range
      4887..37780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000255.4 → NP_000246.2  methylmalonyl-CoA mutase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_000246.2

      Status: REVIEWED

      Source sequence(s)
      AK292568, AK312611, AL590668
      Consensus CDS
      CCDS4924.1
      UniProtKB/Swiss-Prot
      A8K953, P22033, Q5SYZ3, Q96B11, Q9UD64
      UniProtKB/TrEMBL
      A0A024RD82, A0A2S1PH09, A0A2S1PH16, A0A2S1PH20, A0A2S1PH23, A0A2S1PH31, A0A2S1PH34
      Related
      ENSP00000274813.3, ENST00000274813.4
      Conserved Domains (1) summary
      PRK09426
      Location:41 → 744
      PRK09426; methylmalonyl-CoA mutase; Reviewed

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      49430360..49463253 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249143.4 → XP_005249200.1  methylmalonyl-CoA mutase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005249200.1

      UniProtKB/Swiss-Prot
      A8K953, P22033, Q5SYZ3, Q96B11, Q9UD64
      UniProtKB/TrEMBL
      A0A024RD82, A0A2S1PH09, A0A2S1PH16, A0A2S1PH20, A0A2S1PH23, A0A2S1PH31, A0A2S1PH34
      Conserved Domains (1) summary
      PRK09426
      Location:41 → 744
      PRK09426; methylmalonyl-CoA mutase; Reviewed

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      49272390..49305330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355520.1 → XP_054211495.1  methylmalonyl-CoA mutase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A8K953, P22033, Q5SYZ3, Q96B11, Q9UD64
      UniProtKB/TrEMBL
      A0A024RD82
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P22033.4 GenPept UniProtKB/Swiss-Prot:P22033

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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