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MUT methylmalonyl CoA mutase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000255 Homo sapiens methylmalonyl CoA mutase (MUT), mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005249143 PREDICTED: Homo sapiens methylmalonyl CoA mutase (MUT), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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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?

What is the normal function of the MUT gene?

The MUT gene provides instructions for making an enzyme called methylmalonyl CoA mutase. This enzyme is active in mitochondria, which are specialized structures inside cells that serve as energy-producing centers.

Methylmalonyl CoA mutase is responsible for a particular step in the breakdown of several protein building blocks (amino acids), specifically isoleucine, methionine, threonine, and valine. The enzyme also helps break down certain types of fats (lipids) and cholesterol. First, several chemical reactions convert the amino acids, lipids, or cholesterol to a molecule called methylmalonyl CoA. Then, working with a compound called adenosylcobalamin (AdoCbl), which is a form of vitamin B12, methylmalonyl CoA mutase converts methylmalonyl CoA to a compound called succinyl-CoA. Other enzymes break down succinyl-CoA into molecules that are later used for energy.

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