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, ... See more...

Aliases for MMUT Gene

Aliases for MMUT Gene

  • Methylmalonyl-CoA Mutase 2 3 5
  • MCM 2 3 4
  • Methylmalonyl-CoA Mutase, Mitochondrial 3 4
  • Methylmalonyl Coenzyme A Mutase 2 3
  • Methylmalonyl-CoA Isomerase 3 4
  • EC 5.4.99.2 4 51
  • MUT 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 C.*192delA 3
  • Truncated Methylmalonyl CoA Mutase 3
  • Methylmalonyl-CoA Mutase C.*51C>G 3
  • Mutant Methylmalonyl CoA Mutase 3
  • MMUT 5

External Ids for MMUT Gene

Previous HGNC Symbols for MMUT Gene

  • MUT

Summaries for MMUT Gene

Entrez Gene Summary for MMUT 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 MMUT Gene

MMUT (Methylmalonyl-CoA Mutase) is a Protein Coding gene. Diseases associated with MMUT include Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency and Isolated Methylmalonic Acidemia. Among its related pathways are HIV Life Cycle and Defective MMAA causes methylmalonic aciduria type cblA. An important paralog of this gene is MMAA.

UniProtKB/Swiss-Prot Summary for MMUT Gene

  • 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.

Gene Wiki entry for MMUT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MMUT Gene

Genomics for MMUT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MMUT Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 CraniofacialAtlas 289.3 0.0 -3 3.4 CHD2 TBP SP1 MXD4 CEBPA SIX5 NR2C1 MNT IKZF1 BRCA1 MMUT CENPQ
GH06J049549 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.6 -90.3 -90329 7.9 CEBPA FOXA1 ZNF217 ELF1 ZIC2 HOMEZ THAP11 CEBPB ZNF513 ZNF623 lnc-GLYATL3-2 CENPQ PGK2 ENSG00000235122 ENSG00000226707 MMUT C6orf141 HSALNG0050501 HSALNG0050503 RHAG
GH06J049523 Enhancer 0.9 ENCODE 16 -60.3 -60341 1.3 MXD4 CEBPA FOXA1 ZFP64 HOMEZ KDM6A THAP11 CUX1 ZNF511 FOXA2 MMUT GLYATL3 ENSG00000235122 ENSG00000226707 CENPQ RF00017-5591 C6orf141
GH06J049336 Enhancer 0.6 Ensembl 20.9 +126.2 126197 2.2 TAL1 FOSL1 POLR2A TCF12 MTA2 TEAD4 MEIS2 ARID1B TRIM28 CEBPB CENPQ MMUT RF00066-166 RNU7-65P HSALNG0050484 HSALNG0050491
GH06J049325 Enhancer 0.6 Ensembl ENCODE 20.2 +136.5 136497 4 CEBPB EP300 ZKSCAN1 MAFF ZNF133 MMUT CENPQ HSALNG0050491 RF00066-166 RNU7-65P HSALNG0050484
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MMUT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MMUT

Genomic Locations for MMUT Gene

Latest Assembly
chr6:49,430,360-49,463,298
(GRCh38/hg38)
Size:
32,939 bases
Orientation:
Minus strand

Previous Assembly
chr6:49,398,073-49,430,966
(GRCh37/hg19 by Entrez Gene)
Size:
32,894 bases
Orientation:
Minus strand

chr6:49,398,073-49,430,904
(GRCh37/hg19 by Ensembl)
Size:
32,832 bases
Orientation:
Minus strand

Genomic View for MMUT Gene

Genes around MMUT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MMUT Gene

Proteins for MMUT Gene

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

    Protein Symbol:
    P22033-MUTA_HUMAN
    Recommended name:
    Methylmalonyl-CoA mutase, mitochondrial
    Protein Accession:
    P22033
    Secondary Accessions:
    • A8K953
    • Q5SYZ3
    • Q96B11
    • Q9UD64

    Protein attributes for MMUT Gene

    Size:
    750 amino acids
    Molecular mass:
    83134 Da
    Cofactor:
    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, PubMed:21138732, PubMed:28943303).

    Three dimensional structures from OCA and Proteopedia for MMUT Gene

neXtProt entry for MMUT Gene

Selected DME Specific Peptides for MMUT Gene

P22033:
  • EEMGGMAKAVAEGIPKLRIEECAARRQARIDSGSEVIVG
  • DGHDRGAKVIATGFADLGFDVDIGPLFQTPREVA
  • RQYAGFST
  • CAASGDGNILALAV
  • MPKFNSISISGYH
  • QTSGWSLTEQDP
  • DIEKCLEKKQQS
  • GLSVAFDL
  • KFMEREGRR
  • SARIARNTQ
  • AQQAVDADVH
  • GDVGMAGVA
  • AAGHKTLVPELIKEL
  • RGPYPTMY
  • THRGYDSD
  • TQSLHTN
  • VIVGVNKY
  • KKVFGEHKANDRMVSGAYRQEFGESKEI
  • VLAIDNTSVRN
  • ISISGYHMQEAG
  • GTIQNDILKEFMVRNTYI
  • MEIAKMRA
  • VSMTMNGAV
  • TVGEITDA
  • EVGVSNVFGPGTRIP
  • AKMGQDGHDRG
  • LGRPDILVMCGGVIPPQDYEFL
  • QRLLHQQQPLHPEWAALAKKQLKGKNPE
  • AVDADVHAVGVST
  • FAPRLSFFW
  • WHTPEGI
  • NSFDEALGLPTVKSARIARNT
  • LFLLSPH
  • AAVQVLDDIEKCL

Post-translational modifications for MMUT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMUT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MMUT Gene

Gene Families for MMUT Gene

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

Protein Domains for MMUT Gene

InterPro:
Blocks:
  • Methylmalonyl-CoA mutase, alpha and beta chain, catalytic
  • Coenzyme B12-binding
ProtoNet:

Suggested Antigen Peptide Sequences for MMUT Gene

GenScript: Design optimal peptide antigens:
  • Methylmalonyl-CoA isomerase (MUTA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22033

UniProtKB/Swiss-Prot:

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

Function for MMUT Gene

Molecular function for MMUT Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-methylmalonyl-CoA = succinyl-CoA; Xref=Rhea:RHEA:22888, ChEBI:CHEBI:57292, ChEBI:CHEBI:57326; EC=5.4.99.2; Evidence={ECO:0000269|PubMed:1346616, ECO:0000269|PubMed:1978672, ECO:0000269|PubMed:21138732, ECO:0000269|PubMed:24458, ECO:0000269|PubMed:2453061, ECO:0000269|PubMed:25125334, ECO:0000269|PubMed:27167370, ECO:0000269|PubMed:28101778, ECO:0000269|PubMed:28943303, ECO:0000269|PubMed:29056341};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.7 nM for adenosylcob(III)alamin {ECO:0000269|PubMed:25125334}; KM=0.24 uM for adenosylcob(III)alamin {ECO:0000269|PubMed:1978672}; KM=0.35 mM for methylmalonyl-CoA {ECO:0000269|PubMed:1978672}; KM=76.15 uM for methylmalonyl-CoA {ECO:0000269|PubMed:28943303}; KM=23.19 uM for methylmalonyl-CoA (in the presence of methylmalonic aciduria type A protein/MMAA and GTP) {ECO:0000269|PubMed:28943303}; Vmax=9.06 umol/min/mg enzyme for methylmalonyl-CoA {ECO:0000269|PubMed:28943303}; Vmax=4.83 umol/min/mg enzyme for methylmalonyl-CoA in the presence of methylmalonic aciduria type A protein/MMAA and GTP {ECO:0000269|PubMed:28943303};
UniProtKB/Swiss-Prot EnzymeRegulation:
During catalysis, accumulation of oxidized inactive cofactor hydroxocobalamin (OH2Cbl) leads to loss of MMUT activity (PubMed:21138732, PubMed:28943303). Interaction with MMAA decreases the rate of OH2Cbl formation and promotes the replacement of OH2Cbl by the active cofactor adenosylcobalamin (AdoCbl), thereby restoring MMUT activity (PubMed:21138732, PubMed:28943303). Inhibited by itaconyl-CoA, a metabolite that inactivates the coenzyme B12 cofactor (PubMed:29056341). Inhibited at high concentration of substrate (PubMed:28943303).

Enzyme Numbers (IUBMB) for MMUT Gene

Phenotypes From GWAS Catalog for MMUT Gene

Gene Ontology (GO) - Molecular Function for MMUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003924 GTPase activity IDA 20876572
GO:0004494 methylmalonyl-CoA mutase activity IBA,IMP 27167370
GO:0005515 protein binding IPI 20876572
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with MMUT: view
genes like me logo Genes that share phenotypes with MMUT: view

Human Phenotype Ontology for MMUT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MMUT Gene

MGI Knock Outs for MMUT:

Inhibitory RNAs for research

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

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

Localization for MMUT Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMUT Gene

Mitochondrion matrix. Mitochondrion. Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 MMUT gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MMUT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 28943303
GO:0005739 mitochondrion TAS,IDA 28943303
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MMUT: view

Pathways & Interactions for MMUT Gene

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

Gene Ontology (GO) - Biological Process for MMUT Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0050667 homocysteine metabolic process IDA 20031578
genes like me logo Genes that share ontologies with MMUT: view

No data available for SIGNOR curated interactions for MMUT Gene

Drugs & Compounds for MMUT Gene

(17) Drugs for MMUT Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, cofactor 455
Cyanocobalamin Approved Nutra Target, cofactor 457
Cobalt Approved, Experimental Pharma 208
Cobamamide Approved Pharma 0
Cobalamin Experimental Pharma 457

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Methylmalonyl-CoA
  • (R)-Methylmalonyl-CoA
  • (R)-Methylmalonyl-coenzyme A
  • (S)-2-Methyl-3-oxopropanoyl-CoA
  • (S)-Methyl-malonyl-CoA
  • (S)-Methyl-malonyl-coenzyme A
104809-02-1
R-Methylmalonyl-CoA
73173-92-9
genes like me logo Genes that share compounds with MMUT: view

Transcripts for MMUT Gene

mRNA/cDNA for MMUT Gene

1 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for MMUT Gene

GeneLoc Exon Structure for
MMUT

Expression for MMUT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MMUT

SOURCE GeneReport for Unigene cluster for MMUT Gene:

Hs.485527

Evidence on tissue expression from TISSUES for MMUT Gene

  • Liver(4.7)
  • Nervous system(4.5)
  • Kidney(3.9)
  • Intestine(3.5)
  • Stomach(3.3)
  • Thyroid gland(3.1)
  • Skin(3)
  • Heart(2.9)
  • Lymph node(2.9)
  • Adrenal gland(2.9)
  • Pancreas(2.9)
  • Muscle(2.7)
  • Lung(2.7)
  • Gall bladder(2.7)
  • Blood(2.6)
  • Eye(2.3)
  • Spleen(2.3)
  • Bone marrow(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • liver
  • pancreas
  • spleen
  • stomach
General:
  • blood
  • bone marrow
  • coagulation system
  • spinal cord
  • white blood cell
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MMUT Gene

Orthologs for MMUT Gene

This gene was present in the common ancestor of animals.

Orthologs for MMUT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MUT 30 31
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MUT 30 31
  • 92.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MUT 30 31
  • 92.22 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MUT 31
  • 90 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MUT 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Mut 30 31
  • 88.99 (n)
OneToOne
Mmut 17
Rat
(Rattus norvegicus)
Mammalia Mut 30
  • 88.46 (n)
Chicken
(Gallus gallus)
Aves MUT 30 31
  • 79.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MUT 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mut 30
  • 74.94 (n)
Str.10358 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4891 30
Zebrafish
(Danio rerio)
Actinopterygii mut 30 31
  • 73.07 (n)
OneToOne
Dr.7055 30
Worm
(Caenorhabditis elegans)
Secernentea mmcm-1 30 31
  • 66.48 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 74 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4477 30
Species where no ortholog for MMUT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 MMUT Gene

ENSEMBL:
Gene Tree for MMUT (if available)
TreeFam:
Gene Tree for MMUT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MMUT: view image

Paralogs for MMUT Gene

Paralogs for MMUT Gene

genes like me logo Genes that share paralogs with MMUT: view

Variants for MMUT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MMUT Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
836528 Pathogenic: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 49,459,144(-) CG/C
NM_000255.4(MMUT):c.322del (p.Arg108fs)
FRAMESHIFT
841103 Pathogenic: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 49,440,272(-) TCCTCTGTCATGGC/T
NM_000255.4(MMUT):c.1877_1889del (p.Gly626fs)
FRAMESHIFT
842894 Uncertain Significance: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 49,458,038(-) C/T
NM_000255.4(MMUT):c.406G>A (p.Val136Ile)
MISSENSE
845401 Pathogenic: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 49,441,883(-) G/A
NM_000255.4(MMUT):c.1765C>T (p.Gln589Ter)
NONSENSE
851451 Likely Pathogenic: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 49,436,522(-) T/C
NM_000255.4(MMUT):c.1957-899A>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MMUT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMUT

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

Disorders for MMUT Gene

MalaCards: The human disease database

(26) MalaCards diseases for MMUT Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
  • methylmalonic acidemia due to methylmalonyl-coa mutase deficiency
isolated methylmalonic acidemia
  • isolated methylmalonic aciduria
methylmalonic acidemia
  • methylmalonic aciduria
peroxisome biogenesis disorder 8a
  • pbd8a
peroxisome biogenesis disorder 8b
  • pbd8b
- elite association - COSMIC cancer census association via MalaCards
Search MMUT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MUTA_HUMAN
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for MMUT

genes like me logo Genes that share disorders with MMUT: view

No data available for Genatlas for MMUT Gene

Publications for MMUT 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 23 26
  2. 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 23
  3. 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 23
  4. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PMID: 15781192) Martínez MA … Pérez B (Molecular genetics and metabolism 2005) 3 4 23
  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 23

Products for MMUT Gene

Sources for MMUT Gene