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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), nuclear gene encoding mitochondrial protein, 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
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
KEGG
hsa00640Propanoate metabolism
hsa00280Valine, leucine and isoleucine degradation
hsa00630Glyoxylate and dicarboxylate metabolism
BIOCYC
HUMAN_PROPIONMET-PWYmethylmalonyl pathway
HUMAN_PWY-51302-oxobutanoate degradation I
HUMAN_PWY-5328superpathway of methionine degradation
Reactome
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_993Propionyl-CoA catabolism
REACT_22279Fatty acid, triacylglycerol, and ketone body metabolism
REACT_1473Mitochondrial Fatty Acid Beta-Oxidation
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_001067239.2
Rattus norvegicus (Norway rat)LOC100361295XP_002730050.1
Gallus gallus (chicken)MUTXP_420055.1
Danio rerio (zebrafish)mutNP_001092696.1
Caenorhabditis elegansmmcm-1NP_497786.2
GeneCards MUT
PDB 2XIQ, 2XIJ, 3BIC
UniProt B2R6K1, P22033
MIM 609058
Ensembl ENSG00000146085
HGNC 7526
HPRD 02014

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

General protein information

Preferred Names
methylmalonyl-CoA mutase, mitochondrial
Names
methylmalonyl-CoA mutase, mitochondrial
methylmalonyl-CoA isomerase
methylmalonyl Coenzyme A mutase
NP_000246.2

Interactant



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