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MUT methylmalonyl CoA mutase [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu25184 NM_000255 Homo sapiens methylmalonyl CoA mutase (MUT), mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu25184 XM_005249143 PREDICTED: Homo sapiens methylmalonyl CoA mutase (MUT), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu25184C NM_000255 Homo sapiens methylmalonyl CoA mutase (MUT), mRNA. Customized vector On-demand 12-14 $329.00
OHu25184C XM_005249143 PREDICTED: Homo sapiens methylmalonyl CoA mutase (MUT), transcript variant X1, mRNA. Customized vector On-demand 12-14 $329.00

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Gene Symbol MUT
Entrez Gene ID 4594
Full Name methylmalonyl CoA mutase
Synonyms MCM
General protein information
Preferred Names
methylmalonyl-CoA mutase, mitochondrial
Names
methylmalonyl-CoA mutase, mitochondrial
methylmalonyl-CoA isomerase
methylmalonyl Coenzyme A mutase
NP_000246.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p12.3

Summary 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].
Disorder

MIM: 609058

Methylmalonic aciduria, mut(0) type, 251000 (3)

mRNA Protein Product Sequence Price Select
NM_000255, 296010795 NP_000246, 156105689 methylmalonyl-CoA mutase, mitochondrial precursor ORF Sequence $700.00
XM_005249143, 578811695 XP_005249200, 530382073 methylmalonyl-CoA mutase, mitochondrial isoform X1 ORF Sequence $700.00
KEGG
hsa00640Propanoate metabolism
hsa00280Valine, leucine and isoleucine degradation
hsa00630Glyoxylate and dicarboxylate metabolism
hsa01200Carbon metabolism
BIOCYC
META_PROPIONMET-PWYpropionyl CoA degradation
HUMAN_PROPIONMET-PWYmethylmalonyl pathway
HUMAN_PWY-5328superpathway of methionine degradation
HUMAN_PWY-51302-oxobutanoate degradation I
Reactome
REACT_1473Mitochondrial Fatty Acid Beta-Oxidation
REACT_11238Metabolism of water-soluble vitamins and cofactors
REACT_11193Metabolism of vitamins and cofactors
REACT_22279Fatty acid, triacylglycerol, and ketone body metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_993Propionyl-CoA catabolism
REACT_111217Metabolism
REACT_116125Disease
REACT_163862Cobalamin (Cbl, vitamin B12) transport and metabolism
REACT_169132Defective CUBN causes hereditary megaloblastic anemia 1
REACT_169280Defective AMN causes hereditary megaloblastic anemia 1
REACT_169429Defects in cobalamin (B12) metabolism
REACT_169120Defective TCN2 causes hereditary megaloblastic anemia
REACT_169169Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
REACT_169256Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
REACT_169318Defective MMAB causes methylmalonic aciduria type cblB
REACT_169415Defective GIF causes intrinsic factor deficiency
REACT_169439Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
REACT_169313Defective MUT causes methylmalonic aciduria mut type
REACT_169312Defective HLCS causes multiple carboxylase deficiency
REACT_169363Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
REACT_169149Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
REACT_169316Defective MMAA causes methylmalonic aciduria type cblA
REACT_169178Defective CD320 causes methylmalonic aciduria
REACT_169385Defects in vitamin and cofactor metabolism
REACT_169238Defects in biotin (Btn) metabolism
REACT_169403Defective BTD causes biotidinase deficiency
Homo sapiens (human)MUTNP_000246.2
Pan troglodytes (chimpanzee)MUTXP_001146876.1
Macaca mulatta (Rhesus monkey)MUTXP_001104531.1
Canis lupus familiaris (dog)MUTXP_532164.3
Bos taurus (cattle)MUTNP_776364.2
Mus musculus (house mouse)MutNP_032676.2
Rattus norvegicus (Norway rat)MutXP_006244706.1
Gallus gallus (chicken)MUTXP_004935974.1
Danio rerio (zebrafish)mutNP_001092696.1
Caenorhabditis elegansmmcm-1NP_497786.2
Xenopus (Silurana) tropicalis (western clawed frog)mutXP_004915010.1
Process
IDNameEvidence
GO:0006635fatty acid beta-oxidationTAS
GO:0006766vitamin metabolic processTAS
GO:0006767water-soluble vitamin metabolic processTAS
GO:0009235cobalamin metabolic processTAS
GO:0009791post-embryonic developmentIEA
GO:0019626short-chain fatty acid catabolic processTAS
GO:0044255cellular lipid metabolic processTAS
GO:0044281small molecule metabolic processTAS
GO:0050667homocysteine metabolic processIDA
Component
IDNameEvidence
GO:0005739mitochondrionTAS
GO:0005759mitochondrial matrixTAS
Function
IDNameEvidence
GO:0004494methylmalonyl-CoA mutase activityIEA
GO:0031419cobalamin bindingIEA
GO:0046872metal ion bindingIEA
GO:0072341modified amino acid bindingIDA
GeneCards MUT
PDB 2XIQ, 2XIJ, 3BIC
UniProt B2R6K1, P22033
Vega OTTHUMG00000014814
MIM 609058
Ensembl ENSG00000146085
HGNC 7526
HPRD 02014

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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