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 Due To Methylmalonyl-Coa Mutase Deficiency and Methylmalonic Aciduria, Cblb Type. Among its related pathways are Defective MMAA causes methylmalonic aciduria type cblA and Diseases of 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.
Additional gene information for MUT Gene
- Monarch Initiative
- Search for MUT at DataMed
- Search for MUT at HumanCyc
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
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH06I049461 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 589.4 | +0.2 | 187 | 2.5 | HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 YBX1 ZBTB7B | MUT CENPQ GC06P049407 | |
GH06I049549 | Promoter/Enhancer | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 7.6 | -89.2 | -89242 | 5.8 | PKNOX1 ZNF493 ZFP64 SIN3A ZNF2 GLIS2 ZNF213 KLF7 FOS ZNF202 | C6orf141 MUT CENPQ CYP2AC1P | |
GH06I049523 | Enhancer | 0.9 | ENCODE | 16 | -60.3 | -60311 | 1.3 | FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 RXRA | MUT GLYATL3 LOC101927020 LOC101927048 CENPQ GC06P049517 GC06M049537 | |
GH06I049325 | Enhancer | 0.7 | Ensembl ENCODE | 20.2 | +136.7 | 136720 | 2.2 | JUND JUN CEBPB EP300 ZKSCAN1 | MUT CENPQ RNU7-65P ENSG00000217631 | |
GH06I049555 | Enhancer | 1.4 | Ensembl ENCODE dbSUPER | 7.5 | -93.3 | -93258 | 2 | PKNOX1 ATF1 FOXA2 ARID4B SIN3A ZNF766 ATF7 FOS SP3 SP5 | CENPQ PGK2 LOC101927020 LOC101927048 MUT C6orf141 CYP2AC1P |
Regulatory Element Products
Genomic Locations for MUT Gene
- chr6:49,430,360-49,463,328
- (GRCh38/hg38)
- Size:
- 32,969 bases
- Orientation:
- Minus strand
- chr6:49,398,073-49,431,041
- (GRCh37/hg19)
Genomic View for MUT Gene
- Cytogenetic band:
-
- 6p12.3 by Ensembl
- 6p12.3 by Entrez Gene
- 6p12.3 by HGNC


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 (PubMed:20876572). Interacts (the apoenzyme form) with MMAA; the interaction is GTP dependent (PubMed:20876572).
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
-
Abcam antibodies for MUT
- Invitrogen Antibodies for MUT
- Search GeneTex for Antibodies 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
- Search GeneTex for Proteins for MUT
-
Abcam proteins for MUT
Assay Products
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
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.
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 EnzymeRegulation:
- Inhibited by itaconyl-CoA, a metabolite that inactivates the coenzyme B12 cofactor (PubMed:29056341).
- 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
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for MUT Gene
- MGI mutant phenotypes for MUT:
-
inferred from 2 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region 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
- genomics-online: gRNA clones - Search results for available MUT gene related products
- Applied Biological Materials CRISPR for MUT
-
Vectors and viruses for KO, Activation, Repression, and more
-
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 shrna, sirna, and RNAi products in human, mouse, rat for MUT
- Browse OriGene Inhibitory RNA Products For MUT
- genomics-online: shRNA clones - Search results for available MUT gene related products
-
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
- genomics-online: cdna clones - Search results for available MUT gene related products
- orf clones - Search results for available MUT gene related products
- Applied Biological Materials Clones for MUT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
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.
- Cytosol (2)
- Mitochondria (2)
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 MMAA causes methylmalonic aciduria type cblA | ||
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:0043547 | positive regulation of GTPase activity | IDA | 20876572 |
No data available for SIGNOR curated interactions for MUT Gene
Drugs & Compounds for MUT Gene
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
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
- genomics-online: gRNA clones - Search results for available MUT gene related products
- Applied Biological Materials CRISPR for MUT
-
Vectors and viruses for KO, Activation, Repression, and more
-
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 shrna, sirna, and RNAi products in human, mouse, rat for MUT
- Browse OriGene Inhibitory RNA Products For MUT
- genomics-online: shRNA clones - Search results for available MUT gene related products
-
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
- genomics-online: cdna clones - Search results for available MUT gene related products
- orf clones - Search results for available MUT gene related products
- Applied Biological Materials Clones for MUT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MUT Gene
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)
- Heart(2.2)
- Blood(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MUT Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- lymphatic
- nervous
- respiratory
- skeletal muscle
- urinary
- brain
- ear
- head
- diaphragm
- esophagus
- heart
- heart valve
- lung
- kidney
- liver
- pancreas
- spleen
- stomach
- blood
- bone marrow
- coagulation system
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for MUT
-
OriGene qPCR primer pairs for MUT
- genomics-online: primer clones - Search results for available MUT gene related products
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 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | MUT 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | MUT 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | MUT 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | MUT 34 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Mut 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Mut 33 |
|
||
chicken (Gallus gallus) |
Aves | MUT 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | MUT 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | mut 33 |
|
||
Str.10358 33 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4891 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | mut 33 34 |
|
||
Dr.7055 33 |
|
||||
worm (Caenorhabditis elegans) |
Secernentea | ZK1058.1 35 |
|
|
|
mmcm-1 33 34 |
|
||||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
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)
Paralogs for MUT Gene
No data available for Paralogs for MUT Gene
Variants 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 |
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 |
Additional Variant Information for MUT Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUT Gene
Disorders for MUT Gene

(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 aciduria, cblb type |
|
|
isolated methylmalonic acidemia |
|
|
methylmalonyl-coenzyme a mutase deficiency |
|
|
organic acidemia |
|
|
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 mutations affecting the gene represented in this entry.
Genatlas disease for MUT Gene
Additional Disease Information for MUT
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for MUT 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 22 25 58
- [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
- 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
- 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
- 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
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
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- Custom Antibody Services
- 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 of latest version cDNA ORF clones 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 Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for MUT
- Novus Biologicals proteins and lysates for MUT
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for MUT
- Abcam proteins for MUT
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Cloud-Clone Corp. Proteins for MUT
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for MUT
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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
- antibodies-online: Search results for 21 available MUT Antibodies ranked by validation data
- Compare Top MUT Antibodies
- antibodies-online: Search results for 5 available MUT Elisa Kits ranked by validation data
- Compare Top MUT Elisa Kits
- antibodies-online: Search results for 4 available MUT Proteins ranked by validation data
- Compare Top MUT Proteins
- Search GeneTex for Antibodies 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
- genomics-online: cdna clones - Search results for available MUT gene related products
- orf clones - Search results for available MUT gene related products
- genomics-online: gRNA clones - Search results for available MUT gene related products
- genomics-online: primer clones - Search results for available MUT gene related products
- genomics-online: shRNA clones - Search results for available MUT gene related products
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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew