Aliases for MUT Gene
Aliases for MUT Gene
External Ids for MUT Gene
- HGNC: 7526
- Entrez Gene: 4594
- Ensembl: ENSG00000146085
- OMIM: 609058
- UniProtKB: P22033
Previous GeneCards Identifiers for MUT Gene
- GC06M049401
- GC06M049445
- GC06M049126
Summaries 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, Mut(0) Type and Mut-Related Methylmalonic Acidemia. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Diseases of metabolism. 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUT Gene
Genomics for MUT Gene
Regulatory Elements for MUT Gene
Enhancers for MUT Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH06G049461 | 1.1 | ENCODE | 39.4 | +0.2 | 211 | 2.5 | HDGF PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 | MUT GC06P049407 |
| GH06G049325 | 0.9 | Ensembl ENCODE | 20.2 | +136.7 | 136721 | 2.2 | JUN CEBPB EP300 ZKSCAN1 JUND GATA2 ZNF207 FOS MAFK | MUT CENPQ RNU7-65P ENSG00000217631 |
| GH06G049523 | 1 | ENCODE | 16 | -60.3 | -60311 | 1.3 | FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZHX2 | MUT GLYATL3 LOC101927020 LOC101927048 CENPQ GC06P049517 GC06M049537 |
| GH06G049549 | 1.6 | Ensembl ENCODE dbSUPER | 7.6 | -89.2 | -89243 | 5.8 | PKNOX1 FOXA2 MLX ZFP64 SIN3A ARID4B DMAP1 ZNF2 YY1 FOS | MUT CENPQ C6orf141 CYP2AC1P |
| GH06G049555 | 1.6 | Ensembl ENCODE dbSUPER | 7.5 | -93.3 | -93259 | 2.0 | PKNOX1 FOXA2 MLX ZFP64 SIN3A ARID4B DMAP1 ZNF766 FOS SP3 | CENPQ PGK2 LOC101927020 LOC101927048 MUT C6orf141 CYP2AC1P |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around MUT on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the MUT gene promoter:
Regulatory Element Products
Genomic Location for MUT Gene
- Chromosome:
- 6
- Start:
- 49,430,360 bp from pter
- End:
- 49,463,328 bp from pter
- Size:
- 32,969 bases
- Orientation:
- Minus strand
Genomic View for MUT Gene
Genes around MUT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p12.3 by Ensembl
- 6p12.3 by Entrez Gene
- 6p12.3 by HGNC
MUT 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 MUT Gene
Proteins for MUT Gene
-
Protein details for MUT 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 MUT Gene
- Size:
- 750 amino acids
- Molecular mass:
- 83134 Da
- Cofactor:
- Name=adenosylcob(III)alamin; Xref=ChEBI:CHEBI:18408;
- Quaternary structure:
-
- Homodimer.
Protein Expression for MUT Gene
Selected DME Specific Peptides for MUT 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 MUT Gene
Other Protein References for MUT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MUT
- Invitrogen Antibodies for MUT
- antibodies-online Antibodies for MUT: See all 16
- GeneTex MUT antibody for MUT
Protein Products
-
OriGene Purified Proteins for MUT
- Search Origene for MassSpec and Protein Over-expression Lysates for MUT
- Origene Custom Protein Services for MUT
-
Cloud-Clone Corp. Proteins for MUT
- antibodies-online Proteins for MUT: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for MUT
Assay Products
- antibodies-online Kits for MUT: See all 4
Domains & Families for MUT Gene
Protein Domains for MUT Gene
Suggested Antigen Peptide Sequences for MUT Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P22033- Family:
-
- Belongs to the methylmalonyl-CoA mutase family.
No data available for Gene Families for MUT Gene
Function for MUT Gene
Molecular function for MUT Gene
- GENATLAS Biochemistry:
- methylmalonyl-CoA mutase
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=4.7 nM for adenosylcob(III)alamin {ECO:0000269 PubMed:25125334};
- UniProtKB/Swiss-Prot CatalyticActivity:
- (R)-methylmalonyl-CoA = succinyl-CoA.
- 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.
Enzyme Numbers (IUBMB) for MUT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004494 | methylmalonyl-CoA mutase activity | IMP | 27167370 |
| GO:0016853 | isomerase activity | IEA | -- |
| GO:0016866 | intramolecular transferase activity | IEA | -- |
| GO:0031419 | cobalamin binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for MUT Gene
- MGI mutant phenotypes for MUT:
-
inferred from 2 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for MUT:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased hepcidin::fluc mRNA expression
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MUT
-
-
ViGene Biosciences lentiviral particle packaged cDNA for MUT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MUT gene
- Search ViGene Biosciences for MUT
CRISPR Products
-
OriGene CRISPR knockouts for MUT
-
Santa Cruz Biotechnology (SCBT) CRISPR for MUT
- GenScript: Design CRISPR guide RNA sequences for MUT
miRNA for MUT Gene
- miRTarBase miRNAs that target MUT
-
- 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
- Search ViGene Biosciences for MUT
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for MUT
- Browse OriGene Inhibitory RNA Products For MUT
-
ViGene Biosciences ready-to-package AAV shRNAs for MUT gene
Clone Products
- Sino Biological Human cDNA Clone for MUT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MUT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MUT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for MUT
-
ViGene Biosciences adenoviral particle packaged cDNA for MUT gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MUT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MUT gene
Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 4 |
| lysosome | 2 |
| plasma membrane | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | TAS | 2567699 |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for MUT Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 2 | Diseases of metabolism | ||
| 3 | Defective MUT causes methylmalonic aciduria mut type | ||
| 4 | Metabolism of water-soluble vitamins and cofactors | ||
| 5 | Mitochondrial Fatty Acid Beta-Oxidation | ||
Pathways by source for MUT Gene
2 BioSystems pathways for MUT Gene
Interacting Proteins 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:0050667 | homocysteine metabolic process | IDA | 20031578 |
No data available for SIGNOR curated interactions for MUT Gene
Drugs & Compounds for MUT Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| adenosylcobalamin |
|
13870-90-1 |
|
|||
| Methylmalonyl-CoA |
|
104809-02-1 |
|
|||
| R-Methylmalonyl-CoA |
|
73173-92-9 |
|
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
CRISPR Products
-
OriGene CRISPR knockouts for MUT
-
Santa Cruz Biotechnology (SCBT) CRISPR for MUT
- GenScript: Design CRISPR guide RNA sequences for MUT
miRNA Products
- Search ViGene Biosciences for MUT
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for MUT
- Browse OriGene Inhibitory RNA Products For MUT
-
ViGene Biosciences ready-to-package AAV shRNAs for MUT gene
Clone Products
- Sino Biological Human cDNA Clone for MUT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MUT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MUT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||
| SP4: | - |
Expression for MUT Gene
mRNA differential expression in normal tissues according to GTEx for MUT Gene
This gene is overexpressed in Liver (x4.1).
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, PaxDb, MaxQB, and MOPED for MUT Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MUT Gene:
MUTSOURCE GeneReport for Unigene cluster for MUT Gene:
Hs.485527Evidence 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)
- Blood(2.1)
- Heart(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MUT Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- lymphatic
- nervous
- respiratory
- skeletal muscle
- urinary
Organs:
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
Primer Products
-
OriGene qPCR primer pairs for MUT
-
OriGene qPCR primer pairs and template standards for MUT
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MUT 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | MUT 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | MUT 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MUT 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MUT 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mut 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mut 34 |
|
||
| chicken (Gallus gallus) |
Aves | MUT 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | MUT 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mut 34 |
|
||
| Str.10358 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4891 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mut 34 35 |
|
||
| Dr.7055 34 |
|
||||
| worm (Caenorhabditis elegans) |
Secernentea | ZK1058.1 36 |
|
|
|
| mmcm-1 34 35 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4477 34 |
|
- 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)
Paralogs for MUT Gene
No data available for Paralogs for MUT Gene
Variants for MUT Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs115923556 | Uncertain significance, Methylmalonic aciduria type mut (MMAM) [MIM:251000] | 49,459,262(+) | TTTTA(C/T)AGAGA | reference, missense | |
| rs121918249 | Pathogenic, Methylmalonic aciduria type mut (MMAM) [MIM:251000] | 49,459,154(-) | GGCCC(C/T)GGACC | reference, missense | |
| rs121918250 | Pathogenic, Methylmalonic aciduria type mut (MMAM) [MIM:251000] | 49,451,668(-) | GGCAG(A/C)AGTAT | reference, missense | |
| rs121918251 | Pathogenic, Methylmalonic aciduria type mut (MMAM) [MIM:251000] | 49,459,189(-) | CACAC(A/G)TGGAC | reference, missense | |
| rs121918252 | Pathogenic, Methylmalonic aciduria type mut (MMAM) [MIM:251000] | 49,431,831(-) | AGTTG(G/T)TGTTT | reference, missense |
| 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)
Relevant External Links for MUT Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUT Gene
Disorders for MUT Gene
(12) MalaCards diseases for MUT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| methylmalonic aciduria, mut(0) type |
|
|
| mut-related methylmalonic acidemia |
|
|
| methylmalonic acidemia |
|
|
| methylmalonyl-coenzyme a mutase deficiency |
|
|
| isolated methylmalonic acidemia |
|
|
Search MUT 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:22727635, ECO:0000269 PubMed:25125334, ECO:0000269 PubMed:26615597, ECO:0000269 PubMed:27167370, 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
Relevant External Links for MUT
Publications for MUT Gene
- Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID: 16281286) Worgan L.C. … Rosenblatt D.S. (Hum. Mutat. 2006) 3 4 22 25 64
- [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 2009) 3 22 46 64
- 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. (J. Inherit. Metab. Dis. 2008) 3 4 22 64
- Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. (PMID: 17113806) Lempp T.J. … Baumgartner M.R. (Mol. Genet. Metab. 2007) 3 4 22 64
- 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. (Hum. Mutat. 2005) 3 4 22 64
Products for MUT Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
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- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for MUT
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for MUT
- Search Origene for MassSpec and Protein Over-expression Lysates for MUT
- Origene Custom Protein Services for MUT
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for MUT
- Browse OriGene Inhibitory RNA Products For MUT
- OriGene qPCR primer pairs and template standards for MUT
- OriGene qPCR primer pairs for MUT
- OriGene CRISPR knockouts for MUT
- OriGene ORF clones in human for MUT
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MUT
- GenScript: Next-day shipping cDNA ORF clone for MUT in any vector
- GenScript Custom Purified and Recombinant Proteins Services for MUT
- GenScript Custom Assay Services for MUT
- GenScript Custom overexpressing Cell Line Services for MUT
- GenScript: Design CRISPR guide RNA sequences for MUT
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for MUT
- Sino Biological Human cDNA Clone for MUT
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for MUT
- Novus Biologicals proteins and lysates for MUT
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies at Cloud-Clone Corp.
- Cloud-Clone Corp. Proteins for MUT
- Browse Assay Kits at Cloud-Clone Corp.
- antibodies-online Antibodies for MUT: See all 16
- antibodies-online Kits for MUT: See all 4
- antibodies-online Proteins for MUT: See all 4
- Search antibodies-online for peptides
- GeneTex MUT antibody for MUT
- Search GeneTex for Proteins for MUT
- ViGene Biosciences adenoviral particle packaged cDNA for MUT gene
- ViGene Biosciences lentiviral particle packaged cDNA for MUT gene
- ViGene Biosciences ready-to-package AAV shRNAs for MUT gene
- Search ViGene Biosciences for MUT
- Search Santa Cruz Biotechnology (SCBT) for MUT siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MUT
- Horizon Cell Lines for MUT
- Cyagen custom Knockout/knockin (KOKI) mouse models for MUT
- VectorBuilder custom plasmid, inducible vectors for MUT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MUT
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for MUT Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer