Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MUT Gene

Aliases for MUT Gene

  • Methylmalonyl-CoA Mutase 2 3 5
  • Methylmalonyl Coenzyme A Mutase 2 3
  • Methylmalonyl-CoA Isomerase 3 4
  • MCM 3 4
  • Truncated Methylmalonyl-CoA Mutase Variant C.1420C>T 3
  • Truncated Methylmalonyl-CoA Mutase Variant C.2179C>T 3
  • Truncated Methylmalonyl-CoA Mutase Variant C.91C>T 3
  • Methylmalonyl-CoA Mutase Variant C.613_615delGAA 3
  • Methylmalonyl-CoA Mutase Variant C.1495G>A 3
  • Methylmalonyl-CoA Mutase Variant C.2011A>G 3
  • Methylmalonyl-CoA Mutase Variant C.2150G>T 3
  • Methylmalonyl-CoA Mutase Variant C.322C>T 3
  • Methylmalonyl-CoA Mutase Variant C.636G>A 3
  • Methylmalonyl-CoA Mutase Variant C.643G>A 3
  • Methylmalonyl-CoA Mutase, Mitochondrial 3
  • Methylmalonyl-CoA Mutase C.*192delA 3
  • Truncated Methylmalonyl CoA Mutase 3
  • Methylmalonyl-CoA Mutase C.*51C>G 3
  • Mutant Methylmalonyl CoA Mutase 3
  • EC 4

External Ids for MUT Gene

Previous GeneCards Identifiers for MUT Gene

  • GC06M049401
  • GC06M049445
  • GC06M049126

Summaries for MUT Gene

Entrez Gene Summary for MUT Gene

  • 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]

GeneCards Summary for MUT Gene

MUT (Methylmalonyl-CoA Mutase) is a Protein Coding gene. Diseases associated with MUT include Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency and Methylmalonic Aciduria, Cblb Type. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include isomerase activity and modified amino acid binding.

UniProtKB/Swiss-Prot for MUT Gene

  • Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species.

Gene Wiki entry for MUT Gene

Additional gene information for MUT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUT Gene

Genomics for MUT Gene

GeneHancer (GH) Regulatory Elements for MUT Gene

Promoters and enhancers for MUT Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J049461 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 689.4 +0.2 187 2.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 YBX1 ZBTB7B MUT CENPQ GC06P049407
GH06J049523 Enhancer 1 ENCODE 16 -60.3 -60311 1.3 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 NFKBIZ MUT GLYATL3 LOC101927020 LOC101927048 CENPQ GC06P049517 GC06M049537
GH06J049325 Enhancer 0.7 Ensembl ENCODE 20.2 +136.7 136720 2.2 JUND MAFF JUN CEBPB EP300 ZKSCAN1 MUT CENPQ RNU7-65P ENSG00000217631
GH06J049549 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 7.6 -89.2 -89242 5.8 PKNOX1 ZNF493 ZFP64 SIN3A ZNF2 GLIS2 ZNF213 KLF7 FOS ZNF202 MUT CENPQ C6orf141 CYP2AC1P
GH06J049555 Enhancer 1.4 Ensembl ENCODE dbSUPER 7.5 -93.3 -93258 2 PKNOX1 ATF1 FOXA2 ARID4B SIN3A ZNF766 ATF7 FOS NFKBIZ SP3 CENPQ PGK2 LOC101927020 LOC101927048 MUT C6orf141 CYP2AC1P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MUT gene promoter:
  • MRF-2
  • FAC1
  • Cart-1
  • SRF (504 AA)
  • SRF
  • MEF-2A
  • aMEF-2
  • Hand1
  • E47
  • CUTL1

Genomic Locations for MUT Gene

Genomic Locations for MUT Gene
32,969 bases
Minus strand
32,969 bases
Minus strand

Genomic View for MUT Gene

Genes around MUT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUT Gene

Proteins for MUT Gene

  • Protein details for MUT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Methylmalonyl-CoA mutase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A8K953
    • Q5SYZ3
    • Q96B11
    • Q9UD64

    Protein attributes for MUT Gene

    750 amino acids
    Molecular mass:
    83134 Da
    Name=adenosylcob(III)alamin; Xref=ChEBI:CHEBI:18408;
    Quaternary structure:
    • Homodimer (PubMed:20876572). Interacts (the apoenzyme form) with MMAA; the interaction is GTP dependent (PubMed:20876572).

    Three dimensional structures from OCA and Proteopedia for MUT Gene

neXtProt entry for MUT Gene

Post-translational modifications for MUT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MUT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MUT Gene

Domains & Families for MUT Gene

Gene Families for MUT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MUT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the methylmalonyl-CoA mutase family.
  • Belongs to the methylmalonyl-CoA mutase family.
genes like me logo Genes that share domains with MUT: view

Function for MUT Gene

Molecular function for MUT Gene

UniProtKB/Swiss-Prot Function:
Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species.
UniProtKB/Swiss-Prot CatalyticActivity:
(R)-methylmalonyl-CoA = succinyl-CoA.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by itaconyl-CoA, a metabolite that inactivates the coenzyme B12 cofactor (PubMed:29056341).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.7 nM for adenosylcob(III)alamin {ECO:0000269 PubMed:25125334};
GENATLAS Biochemistry:
methylmalonyl-CoA mutase

Enzyme Numbers (IUBMB) for MUT Gene

Phenotypes From GWAS Catalog for MUT Gene

Gene Ontology (GO) - Molecular Function for MUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 20876572
GO:0004494 methylmalonyl-CoA mutase activity IMP 27167370
GO:0005515 protein binding IPI 20876572
GO:0016853 isomerase activity IEA --
GO:0016866 intramolecular transferase activity IEA --
genes like me logo Genes that share ontologies with MUT: view
genes like me logo Genes that share phenotypes with MUT: view

Human Phenotype Ontology for MUT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MUT Gene

MGI Knock Outs for MUT:
  • Mut Mut<tm1Cpv>
  • Mut Mut<tm1Pai>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUT

No data available for Transcription Factor Targets and HOMER Transcription for MUT Gene

Localization for MUT Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUT Gene

Mitochondrion matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUT gene
Compartment Confidence
mitochondrion 5
cytosol 4
lysosome 2
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 2567699
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MUT: view

Pathways & Interactions for MUT Gene

genes like me logo Genes that share pathways with MUT: view

Gene Ontology (GO) - Biological Process for MUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0009791 post-embryonic development IEA --
GO:0019626 short-chain fatty acid catabolic process TAS --
GO:0043547 positive regulation of GTPase activity IDA 20876572
genes like me logo Genes that share ontologies with MUT: view

No data available for SIGNOR curated interactions for MUT Gene

Drugs & Compounds for MUT Gene

(16) Drugs for MUT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, cofactor 337
Cyanocobalamin Approved Nutra Target, Enzyme, cofactor, inducer 337
Cobamamide Approved Pharma 0
Succinyl-CoA Experimental Pharma 0
Cobalt Pharma 174

(5) Additional Compounds for MUT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (R)-Methylmalonyl-CoA
  • (R)-Methylmalonyl-coenzyme A
  • (S)-2-Methyl-3-oxopropanoyl-CoA
  • (S)-Methyl-malonyl-CoA
  • (S)-Methyl-malonyl-coenzyme A
genes like me logo Genes that share compounds with MUT: view

Transcripts for MUT Gene

mRNA/cDNA for MUT Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(286) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MUT Gene

Methylmalonyl CoA mutase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUT

Alternative Splicing Database (ASD) splice patterns (SP) for MUT Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP3: -
SP4: -

Relevant External Links for MUT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MUT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUT Gene

mRNA differential expression in normal tissues according to GTEx for MUT Gene

This gene is overexpressed in Liver (x4.1).

Protein differential expression in normal tissues from HIPED for MUT Gene

This gene is overexpressed in Liver (12.2), Liver, secretome (6.9), and Nasal epithelium (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MUT Gene

Protein tissue co-expression partners for MUT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MUT Gene:


SOURCE GeneReport for Unigene cluster for MUT Gene:


Evidence on tissue expression from TISSUES for MUT Gene

  • Liver(4.7)
  • Nervous system(4.4)
  • Kidney(3.3)
  • Intestine(2.8)
  • Adrenal gland(2.3)
  • Gall bladder(2.3)
  • Stomach(2.3)
  • Thyroid gland(2.3)
  • Heart(2.2)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MUT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • kidney
  • liver
  • pancreas
  • spleen
  • stomach
  • blood
  • bone marrow
  • coagulation system
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with MUT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MUT Gene

Orthologs for MUT Gene

This gene was present in the common ancestor of animals.

Orthologs for MUT Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MUT 34 33
  • 99.6 (n)
(Canis familiaris)
Mammalia MUT 34 33
  • 92.71 (n)
(Bos Taurus)
Mammalia MUT 34 33
  • 92.22 (n)
(Ornithorhynchus anatinus)
Mammalia MUT 34
  • 90 (a)
(Monodelphis domestica)
Mammalia MUT 34
  • 89 (a)
(Mus musculus)
Mammalia Mut 16 34 33
  • 88.99 (n)
(Rattus norvegicus)
Mammalia Mut 33
  • 88.46 (n)
(Gallus gallus)
Aves MUT 34 33
  • 79.46 (n)
(Anolis carolinensis)
Reptilia MUT 34
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mut 33
  • 74.94 (n)
Str.10358 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4891 33
(Danio rerio)
Actinopterygii mut 34 33
  • 73.07 (n)
Dr.7055 33
(Caenorhabditis elegans)
Secernentea ZK1058.1 35
  • 69 (a)
mmcm-1 34 33
  • 66.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 74 (a)
Cin.4477 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4477 33
Species where no ortholog for MUT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MUT Gene

Gene Tree for MUT (if available)
Gene Tree for MUT (if available)
Evolutionary constrained regions (ECRs) for MUT: view image

Paralogs for MUT Gene

No data available for Paralogs for MUT Gene

Variants for MUT Gene

Sequence variations from dbSNP and Humsavar for MUT Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1044264539 uncertain-significance, Methylmalonic acidemia 49,431,528(-) T/A 3_prime_UTR_variant
rs1057518979 uncertain-significance, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 49,459,429(-) G/A coding_sequence_variant, missense_variant
rs10713340 likely-benign, Methylmalonic acidemia 49,431,527(-) TTTTTTTTTT/TTTTTTTTT 3_prime_UTR_variant
rs111322712 uncertain-significance, Methylmalonic acidemia 49,431,170(-) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs113025987 uncertain-significance, Methylmalonic acidemia 49,431,627(-) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for MUT Gene

Variant ID Type Subtype PubMed ID
dgv10654n54 CNV gain 21841781
dgv10655n54 CNV gain 21841781
dgv1768e212 CNV gain 25503493
dgv5960n100 CNV gain 25217958
esv3608946 CNV gain 21293372

Variation tolerance for MUT Gene

Residual Variation Intolerance Score: 43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.94; 89.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUT Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUT Gene

Disorders for MUT Gene

MalaCards: The human disease database

(11) MalaCards diseases for MUT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
  • methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency
methylmalonic aciduria, cblb type
  • methylmalonic acidemia, cblb type
isolated methylmalonic acidemia
  • isolated methylmalonic aciduria
methylmalonyl-coenzyme a mutase deficiency
  • mcm deficiency
organic acidemia
  • organic acid metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search MUT in MalaCards View complete list of genes associated with diseases


  • Methylmalonic aciduria type mut (MMAM) [MIM:251000]: An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy. {ECO:0000269 PubMed:10923046, ECO:0000269 PubMed:11350191, ECO:0000269 PubMed:1346616, ECO:0000269 PubMed:1351030, ECO:0000269 PubMed:15643616, ECO:0000269 PubMed:15781192, ECO:0000269 PubMed:16281286, ECO:0000269 PubMed:1670635, ECO:0000269 PubMed:17113806, ECO:0000269 PubMed:17957493, ECO:0000269 PubMed:19588269, ECO:0000269 PubMed:1977311, ECO:0000269 PubMed:1980486, ECO:0000269 PubMed:22727635, ECO:0000269 PubMed:25125334, ECO:0000269 PubMed:26615597, ECO:0000269 PubMed:27167370, ECO:0000269 PubMed:28101778, ECO:0000269 PubMed:7909321, ECO:0000269 PubMed:7912889, ECO:0000269 PubMed:9285782, ECO:0000269 PubMed:9452100, ECO:0000269 PubMed:9554742}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MUT Gene

hyperglycinemia,ketotic methylmalonic acidemia

Additional Disease Information for MUT

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MUT: view

Publications for MUT Gene

  1. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID: 16281286) Worgan LC … Rosenblatt DS (Human mutation 2006) 3 4 22 25 58
  2. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. (PMID: 19806564) Wang F … Gu X (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2009) 3 22 44 58
  3. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. (PMID: 17957493) Merinero B … Ugarte M (Journal of inherited metabolic disease 2008) 3 4 22 58
  4. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. (PMID: 17113806) Lempp TJ … Baumgartner MR (Molecular genetics and metabolism 2007) 3 4 22 58
  5. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. (PMID: 15643616) Acquaviva C … Elion J (Human mutation 2005) 3 4 22 58

Products for MUT Gene

Sources for MUT Gene

Loading form....