MUT Gene
protein-coding GIFtS: 66
GCID: GC06M049445
|
|
methylmalonyl CoA mutase(Previous name: methylmalonyl Coenzyme A mutase )
| |
Aliases
for MUT gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Methylmalonyl CoA Mutase1 2 | | MCM2 3 5 | | Methylmalonyl Coenzyme A Mutase1 2 | | Methylmalonyl-CoA Isomerase2 3 | | EC 5.4.99.23 8 | | Methylmalonyl-CoA Mutase, Mitochondrial2 |
Export aliases for MUT gene to outside databasesPrevious GC identifers: GC06M049401 GC06M049506 GC06M049126 |
Summaries
for MUT gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MUT:
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is avitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in otherspecies this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonicaciduria. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033Function: Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoAto the tricarboxylic acid cycle. MCM has different functions in other species
Gene Wiki entry for MUT (Methylmalonyl-CoA mutase)
|
Genomic Views
for MUT gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007592.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MUT gene promoter:
SRF SRF (504 AA) CUTL1 E47 MEF-2A FAC1 Cart-1 Hand1 aMEF-2 MRF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for MUT
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUT |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p12.3 Ensembl cytogenetic band: 6p12.3 HGNC cytogenetic band: 6p21MUT Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M049445: view genomic region
(about GC identifiers)
Start:
|
49,398,073 bp from pter |
End:
|
49,431,041 bp from pter |
Size:
|
32,969 bases |
Orientation:
|
minus strand |
|
Proteins
for MUT gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033 (See
protein sequence)Recommended Name: Methylmalonyl-CoA mutase, mitochondrial precursor Size: 750 amino acids; 83134 Da
Cofactor: Adenosylcobalamin
Subunit: Homodimer
Subcellular location: Mitochondrion matrix
3 PDB 3D structures from  and Proteopedia  for MUT:2XIJ (3D)
2XIQ (3D)
3BIC (3D)
Secondary accessions: A8K953 Q5SYZ3 Q96B11 Q9UD64Explore the universe of human proteins at neXtProt for MUT: NX_P22033
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P22033
4/34 DME Specific Peptides for MUT (P22033) (see all 34)
MUT Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000246.2
ENSEMBL proteins: ENSP00000274813 Reactome Protein details: P22033
Human Recombinant Protein Products for MUT:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
MUT for ontologies About GeneDecksing
MUT Antibody Products:
Assay Products for MUT: |
Protein
Domains /
Families
for MUT gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MUT for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry P22033ProtoNet protein and cluster: P22033 2 Blocks protein families: IPB006099 Methylmalonyl-CoA mutase IPB006158 Coenzyme B12-binding
UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033Similarity: Belongs to the methylmalonyl-CoA mutase familySimilarity: Contains 1 B12-binding domain |
Function
for MUT gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: MUTA_HUMAN, P22033Function: Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoAto the tricarboxylic acid cycle. MCM has different functions in other speciesCatalytic activity: (R)-methylmalonyl-CoA = succinyl-CoA Genatlas biochemistry entry for MUT:methylmalonyl-CoA mutase
Enzyme Number (IUBMB): EC 5.4.99.21 2
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
MUT for ontologies About GeneDecksing
Phenotypes:
3 GenomeRNAi human phenotypes for MUT:
14 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Mut):
MUT for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for MUT: Muttm1Pai Muttm1Cpv
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MUT (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MUT
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MUT (NM_000255) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MUT | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUT |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT |
|
Pathways & Interactions
for MUT gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Metabolism | | | 2 | Propionyl-CoA catabolism | | | 3 | Branched-chain amino acid catabolism | | | 4 | Glyoxylate and dicarboxylate metabolism | | | 5 | 2-oxoisovalerate decarboxylation to isobutanoyl-CoA | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3  BioSystems Pathways for MUT
5 
Reactome Pathways for MUT
4 
Kegg Pathways (Kegg details for MUT):
MUT for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MUT
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/244 Interacting proteins for MUT (P220332, 3 ENSP000002748134) via UniProtKB, MINT, STRING, and/or I2D (see all 244)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006635 | fatty acid beta-oxidation |
TAS | -- | | GO:0009791 | post-embryonic development |
IEA | -- | | GO:0019626 | short-chain fatty acid catabolic process |
TAS | -- | | GO:0044255 | cellular lipid metabolic process |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
MUT for ontologies About GeneDecksing
|
Drugs & Compounds
for MUT gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MUT for compounds About GeneDecksing
 Browse Tocris compounds for MUT
6 HMDB Compounds for MUT About this table
2 DrugBank Compounds for MUT About this table
10/16 Novoseek chemical compound relationships for MUT gene (see all 16) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| adenosylcobalamin |
94.5 |
30 |
10377254 (2), 9285782 (2), 9554742 (1), 17410422 (1) (see all 18) |
| l-methylmalonyl-coa |
91.1 |
7 |
1979711 (2), 1970332 (1), 9285782 (1), 16823967 (1) |
| cobalamin |
79.6 |
16 |
10377254 (2), 9242908 (1), 16150626 (1), 17075691 (1) (see all 10) |
| methylmalonic acid |
79.4 |
3 |
8929440 (2), 8017644 (1) |
| methylcobalamin |
64.9 |
3 |
10377254 (1), 16150626 (1) |
| vitamin b12 |
64.5 |
6 |
9554742 (1), 18375549 (1), 16150626 (1), 20174775 (1) (see all 5) |
| propionate |
60.2 |
10 |
1363155 (4), 10518277 (1), 8929440 (1), 19699272 (1) |
| methionine |
41.9 |
7 |
9242908 (1), 10377254 (1), 16150626 (1), 20174775 (1) (see all 7) |
| carnitine |
38.3 |
1 |
1363155 (1) |
| cobalt |
35.8 |
2 |
9242908 (2) |
Search CenterWatch for drugs/clinical trials and news about MUT / MUTA
|
Transcripts
for MUT gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MUT gene: NM_000255.3 Unigene Cluster for MUT: Methylmalonyl CoA mutase Hs.485527 [show with all ESTs]Unigene Representative Sequence: NM_0002551 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000274813(uc003ozg.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MUT (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MUT
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MUT (NM_000255) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MUT | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUT |
Additional cDNA sequence: AK292568.1 AK312611.1 BC016282.1 BT007434.1 M65131.1 7 DOTS entries: DT.452288 DT.95275002 DT.102828174 DT.92440605 DT.92440604 DT.40309424 DT.100814317 24/286 AceView cDNA sequences (see all 286): AA232575 BU616598 BQ953836 AV652668 AV654874 CA391153 AU143086 AL524144 AA232707 AI795914 BI766242 BG428937 AV647421 AA761038 AU103579 AI022429 AV647666 AL702891 BU609220 AI241116 AV651416 AV652036 BF196499 CA419536
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for MUT About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MUT
|
Expression
for MUT gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MUT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGATGTATT
About this image
See MUT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MUT
SOURCE GeneReport for Unigene cluster: Hs.485527
SABiosciences Expression via Pathway-Focused PCR Arrays including MUT:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MUT
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MUT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MUT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MUT | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT |
Orthologs
for MUT gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for MUT gene from 7/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Mut1 , 5 |
methylmalonyl-Coenzyme A mutase1, 5 |
88.99(n)1
95.05(a)1 |
|
17 (19.55 cM)5
178501 NM_008650.31 NP_032676.21
409346855 |
chicken
(Gallus gallus) |
Aves |
MUT1 |
methylmalonyl CoA mutase |
79.38(n)
87.42(a) |
|
422049 XM_420055.3 XP_420055.1 |
lizard
(Anolis carolinensis) |
Reptilia |
MUT6 |
-- |
87(a) |
1 ↔ 1 |
1(139478969-139500413) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.48912 |
Xenopus laevis transcribed sequence with moderate similarity more |
78.09(n) |
|
AW644910.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.70552 |
Transcribed sequence with moderate similarity to protein more |
77.18(n) |
|
CK027470.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
ZK1058.13
mmcm-11 |
Methylmalonyl-coA mutase3
Protein MMCM-11 |
69(a)3
66.39(n)1
70.8(a)1 |
|
III(3975202-3979463)3
1755031 NM_065385.51 NP_497786.21 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
scpA6 |
methylmalonyl-CoA mutase |
59(a) |
1 ↔ 1 |
Chromosome(3058872-3061016) |
ENSEMBL Gene Tree for MUT (if available)
TreeFam Gene Tree for MUT (if available) |
Paralogs
for MUT gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for MUT gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MUT (49398073 - 49431041 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MUT: --
Human Gene Mutation Database (HGMD): MUT
Locus Specific Mutation Databases (LSDB): MUT
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MUT |
|
Disorders
/ Diseases
for MUT gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MUT for disorders About GeneDecksing
OMIM gene information: 609058
OMIM disorders: 251000
UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033
Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM) [MIM:251000]. MMAM is an often fataldisorder 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-) orabsence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the diseasethan do MUT- patients. MMAM is unresponsive to vitamin B12 therapy
20/23  diseases for MUT (see all 23): About MalaCardsmethylmalonic aciduria, mut(0) type methylmalonyl-coenzyme a mutase deficiency methylmalonic aciduria and homocystinuria neural tube defect
propionic acidemia methylmalonic acidemia megaloblastic anemia homocystinuria
cblf metabolic disorders cytomegalovirus infection hepatitis c
hypotonia anemia homocysteine prostate cancer
ischemia hepatitis cerebritis cholesterol
2 diseases from the University of Copenhagen DISEASES database for MUT:Methylmalonic acidemia Hepatitis C 3 Novoseek disease relationships for MUT gene About this table
Genatlas disease: MUT hyperglycinemia,ketotic methylmalonic acidemia
GeneTests: MUT
Methylmalonic Acidemia
Genetic Association Database (GAD): MUT
Human Genome Epidemiology (HuGE) Navigator: MUT (24 documents)
Export disorders for MUT gene to outside databases
|
Publications
for MUT gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MUT gene, integrated from 9 sources (see all 149):
(articles sorted by number of sources associating them with MUT) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PubMed id 16281286)1, 2, 7, 9 Worgan L.C.... Rosenblatt D.S. (2006)
- Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PubMed id 15781192)1, 2, 9 Martinez M.A....Perez B. (2005)
- Fine mapping of the autosomal recessive polycystic ki dney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p2 1.1-p12. (PubMed id 9503014)1, 3, 9 MA1cher G....Zerres K. (1998)
- Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. (PubMed id 1346616)1, 2, 9 Crane A.M.... Ledley F.D. (1992)
- Structure of the human methylmalonyl-CoA mutase (MUT) locus. (PubMed id 1980486)1, 2, 9 Nham S.U.... Ledley F.D. (1990)
- 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. (PubMed id 15643616)1, 2, 9 Acquaviva C.... Elion J. (2005)
- Mutation analysis of the MCM gene in Israeli patients with mut(0) disease. (PubMed id 11350191)1, 2, 9 Berger I.... Elpeleg O.N. (2001)
- mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. (PubMed id 10923046)1, 2, 9 Fuchshuber A.... Hildebrandt F. (2000)
- Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. (PubMed id 9285782)1, 2, 9 Janata J.... Fenton W.A. (1997)
- Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia. (PubMed id 7912889)1, 2, 9 Crane A.M. and Ledley F.D. (1994)
|
External Searches for MUT gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MUT gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MUT gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MUT gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MUT | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MUT | | Wikipedia | http://en.wikipedia.org/wiki/Methylmalonyl_Coenzyme_A_mutase |
|
| | |
About This Section
| Patent Information for MUT gene:
Search GeneIP for patents involving MUT
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MUT gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for MUT | | OriGene shRNA RFP for MUT | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MUT | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MUT | | | OriGene Protein Over-expression Lysate for MUT | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MUT | | OriGene 3'-UTR Clone for MUT | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MUT | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MUT | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MUT | | OriGene Custom Protein Services for MUT | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MUT | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MUT | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUT | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MUT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MUT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MUT |
| |
 |  |  |  | |
| | | | Search Tocris compounds for MUT |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | MUT Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT |
|  |  |  |  | | | | Search ThermoFisher Antibodies for MUT |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUT |
| |  | |
|
|
|
