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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
- HGNC: 7526
- NCBI Entrez Gene: 4594
- Ensembl: ENSG00000146085
- OMIM®: 609058
- UniProtKB/Swiss-Prot: P22033
Previous HGNC Symbols for MMUT Gene
- MUT
Summaries 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.
Additional gene information for MMUT Gene
- HGNC (7526)
- NCBI Entrez Gene (4594)
- Ensembl (ENSG00000146085)
- OMIM® (609058)
- UniProtKB/Swiss-Prot (P22033)
- Open Targets Platform(ENSG00000146085)
- Monarch Initiative
- Search for MMUT at DataMed
- Search for MMUT at HumanCyc
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
- 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:
-
- 6p12.3 by HGNC
- 6p12.3 by Entrez Gene
- 6p12.3 by Ensembl
MMUT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
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
Other Protein References for MMUT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences MUT / MCM Monoclonal Antibody
- Novus Biologicals Antibodies for MMUT
-
Abcam antibodies for MMUT
- Invitrogen Antibodies for MMUT (AFLGC-MMUT)
-
Custom Antibody ServicesProSci Antibodies for MMUT
- Sino Biological Antibodies for MMUT
Protein products for research
-
OriGene Purified Proteins for MMUT
- Search Origene for MassSpec and Protein Over-expression Lysates for MMUT
- Origene Custom Protein Services for MMUT
- antibodies-online: Show 6 available MUT Proteins ranked by validation data
- Compare Top MUT Proteins
-
Abcam proteins for MMUT
Assay products for research
- antibodies-online: Show 6 available MUT Elisa Kits ranked by validation data
- Compare Top MUT Elisa Kits
-
Quality Products:
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- Family:
-
- Belongs to the methylmalonyl-CoA mutase family.
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
| 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 | -- |
Phenotypes for MMUT Gene
- MGI mutant phenotypes for MMUT:
-
inferred from 3 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- liver/biliary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- GenomeRNAi human phenotypes for MMUT:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MMUT - Starting at $85 >
- * MMUT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MMUT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MMUT
miRNA for MMUT Gene
- miRTarBase miRNAs that target MMUT
-
- hsa-miR-155-5p (MIRT020551)
- hsa-miR-615-3p (MIRT039809)
- hsa-miR-4776-3p (MIRT620899)
- hsa-miR-4715-3p (MIRT620900)
- hsa-miR-3064-3p (MIRT620901)
- hsa-miR-4753-3p (MIRT620902)
- hsa-miR-6749-3p (MIRT620903)
- hsa-miR-130b-5p (MIRT620904)
- hsa-miR-150-5p (MIRT620905)
- hsa-miR-186-3p (MIRT620906)
- hsa-miR-8063 (MIRT620907)
- hsa-miR-483-3p (MIRT620908)
- hsa-miR-216b-5p (MIRT620909)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MMUT
- Browse OriGene Inhibitory RNA Products For MMUT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMUT
Clone products for research
- Applied Biological Materials (abm): Clones for MMUT - Starting at $45 >
- * MMUT as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MMUT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MMUT
Cell Lines for research
-
Horizon Cell Lines 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.
| 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 |
- Cytosol (2)
- Mitochondria (2)
| 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 | -- |
Pathways & Interactions for MMUT Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Diseases of metabolism | ||
| 3 | Defective MMAA causes methylmalonic aciduria type cblA | ||
| 4 | Metabolism of water-soluble vitamins and cofactors | ||
| 5 | Mitochondrial Fatty Acid Beta-Oxidation | ||
Pathways by source for MMUT Gene
2 BioSystems pathways for MMUT Gene
Interacting Proteins for MMUT Gene
Selected Interacting proteins:
P22033-MUTA_HUMAN
ENSP00000274813
for MMUT Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MMUT
| 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 |
No data available for SIGNOR curated interactions for MMUT Gene
Drugs & Compounds for MMUT Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Methylmalonyl-CoA |
|
104809-02-1 |
|
|||
| R-Methylmalonyl-CoA |
|
73173-92-9 |
|
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 :
-
- ENST00000274813 3811 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MMUT - Starting at $85 >
- * MMUT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MMUT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MMUT
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MMUT
- Browse OriGene Inhibitory RNA Products For MMUT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMUT
Clone products for research
- Applied Biological Materials (abm): Clones for MMUT - Starting at $45 >
- * MMUT as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MMUT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MMUT
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.485527Evidence 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
-
OriGene qPCR primer pairs for MMUT
-
OriGene qPCR primer pairs and template standards for MMUT
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MUT 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MUT 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MUT 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MUT 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MUT 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mut 30 31 |
|
OneToOne | |
| Mmut 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Mut 30 |
|
||
| Chicken (Gallus gallus) |
Aves | MUT 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MUT 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mut 30 |
|
||
| Str.10358 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4891 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mut 30 31 |
|
OneToOne | |
| Dr.7055 30 |
|
||||
| Worm (Caenorhabditis elegans) |
Secernentea | mmcm-1 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| methylmalonic aciduria due to methylmalonyl-coa mutase deficiency |
|
|
| isolated methylmalonic acidemia |
|
|
| methylmalonic acidemia |
|
|
| peroxisome biogenesis disorder 8a |
|
|
| peroxisome biogenesis disorder 8b |
|
|
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
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No data available for Genatlas for MMUT Gene
Publications for MMUT Gene
- 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
- 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
- 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
- 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
- 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
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- antibodies-online: Show 31 available MUT Antibodies ranked by validation data
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- antibodies-online: Show 6 available MUT Proteins ranked by validation data
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Sources for MMUT Gene
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