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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MUT Gene

protein-coding GIFtS: 67
GCID: GC06M049445

Methylmalonyl CoA Mutase

(Previous name: methylmalonyl Coenzyme A mutase)

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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

External Ids:	HGNC: 7526¹	Entrez Gene: 4594²	Ensembl: ENSG00000146085⁷	OMIM: 609058⁵	UniProtKB: P22033³

Export aliases for MUT gene to outside databases

Previous GC identifers: GC06M049401 GC06M049506 GC06M049126

(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 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 acidemia, and methylmalonyl-coenzyme a mutase deficiency, and among its related super-pathways are Metabolic pathways and methylmalonyl pathway. GO annotations related to this gene include methylmalonyl-CoA mutase activity and cobalamin binding.

UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033

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

Gene Wiki entry for MUT (Methylmalonyl-CoA mutase) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NT_007592.15 NC_018917.2

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

SwitchGear Promoter luciferase reporter plasmid: MUT promoter sequence

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: 6p21

MUT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUT gene location

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 Q9UD64

Explore the universe of human proteins at neXtProt for MUT: NX_P22033

Explore proteomics data for MUT at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P22033

4/34 DME Specific Peptides for MUT (P22033) (see all 34)

TQSLHTN

WHTPEGI

LFLLSPH

MEIAKMRA

MUT Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_000246.2

ENSEMBL proteins:

ENSP00000274813

Reactome Protein details: P22033
Human Recombinant Protein Products for MUT:

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	Novus Biologicals MUT Proteins Novus Biologicals MUT Lysates
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	Cloud-Clone Corp. Proteins for MUT

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	TAS	2567699
GO:0005759	mitochondrial matrix	TAS	--

MUT for ontologies About GeneDecksing

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Assay Products for MUT:

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	Cloud-Clone Corp. ELISAs for MUT Cloud-Clone Corp. CLIAs for MUT

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/6 InterPro protein domains (see all 6):

IPR006098 MMCoA_mutase_a_cat

IPR014348 Cbl-dep_enz_cat-sub

IPR006099 MeMalonylCoA_mutase_a/b_cat

IPR016176 Cbl-dep_enz_cat

IPR006159 Acid_CoA_mut_C

Graphical View of Domain Structure for InterPro Entry P22033

ProtoNet protein and cluster: P22033

2 Blocks protein domains:

IPB006099 Methylmalonyl-CoA mutase

IPB006158 Coenzyme B12-binding

UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033

Similarity: Belongs to the methylmalonyl-CoA mutase family

Similarity: Contains 1 B12-binding domain

MUT for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MUTA_HUMAN, P22033

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

Catalytic 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): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0004494	methylmalonyl-CoA mutase activity	IEA	--
GO:0016853	isomerase activity	--	--
GO:0016866	intramolecular transferase activity	--	--
GO:0031419	cobalamin binding	IEA	--

MUT for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for MUT:

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

Upregulation of Wnt/beta-caten

14 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Mut):

behavior/neurological	cardiovascular system	cellular	digestive/alimentary	endocrine/exocrine gland
growth/size	homeostasis/metabolism	immune system	liver/biliary system	mortality/aging
nervous system	other	renal/urinary system	respiratory system

MUT for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for MUT: Mut^tm1Pai Mut^tm1Cpv

inGenious Targeting Laboratory - Custom generated mouse model solutions for MUT

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MUT

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MUT

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MUT

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		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate MUT (see all 16):
		hsa-miR-548w hsa-miR-548j hsa-miR-320a hsa-miR-559 hsa-miR-548i hsa-miR-548h hsa-miR-548c-5p hsa-miR-548k

		SwitchGear 3'UTR luciferase reporter plasmid: MUT 3' UTR sequence

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MUT
		Search LifeMap BioReagents cell lines for MUT

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for MUT About (see all 10)

See pathways by source

SuperPath

Contained pathways About

Metabolism

	Metabolism	0.40			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.40

Propionyl-CoA catabolism

Propionyl-CoA catabolism

0.60

methylmalonyl pathway

0.60

Metabolism of vitamins and cofactors

Metabolism of water-soluble vitamins and cofactors

1.00

Metabolism of vitamins and cofactors

1.00

2-oxobutanoate degradation I

2-oxobutanoate degradation I

0.57

superpathway of methionine degradation

0.37

Branched-chain amino acid catabolism

Valine, leucine and isoleucine degradation

0.39

Propanoate metabolism

0.31

Pathways by source See SuperPaths
Show all pathways

3 BioSystems Pathways for MUT

	methylmalonyl pathway
	superpathway of methionine degradation
	2-oxobutanoate degradation I

5/8 Reactome Pathways for MUT (see all 8)

	Metabolism
	Metabolism of vitamins and cofactors
	Fatty acid, triacylglycerol, and ketone body metabolism
	Mitochondrial Fatty Acid Beta-Oxidation
	Propionyl-CoA catabolism

5 Kegg Pathways (Kegg details for MUT):

	Valine, leucine and isoleucine degradation
	Glyoxylate and dicarboxylate metabolism
	Propanoate metabolism
	Metabolic pathways
	Carbon metabolism

MUT for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MUT

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/258 Interacting proteins for MUT (P22033^{2, 3} ENSP00000274813⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 258)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ICT1	Q14197²^,³, ENSP00000301585⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000301585
MMAA	Q8IVH4³, ENSP00000281317⁴	I2D: score=1 STRING: ENSP00000281317
SUCLA2	Q9P2R7², ENSP00000367923⁴	MINT-8079030 STRING: ENSP00000367923
C12orf44	Q9BSB4³	I2D: score=1
PCBD1	P61457³	I2D: score=1

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006635	fatty acid beta-oxidation	TAS	--
GO:0006766	vitamin metabolic process	TAS	--
GO:0006767	water-soluble vitamin metabolic process	TAS	--
GO:0008152	metabolic process	--	--
GO:0009235	cobalamin metabolic process	TAS	--

MUT for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MUT (MUTA)

6 HMDB Compounds for MUT About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosylcobalamin	(5'-Deoxy-5'-adenosyl)cobamide coenzyme (see all 15)	13870-90-1	--
Cobalamin	5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)	13408-78-1	--
Cobalt	Co (see all 6)	7440-48-4	--
Cyanocobalamin	Dimethylbenzimidazoylcobamide (see all 92)	68-19-9	--
R-Methylmalonyl-CoA		73173-92-9	--
Succinyl-CoA	Coenzyme A S-(hydrogen succinate) (see all 24)	604-98-8	--

2 DrugBank Compounds for MUT About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Hydroxocobalamin	Hydroxomin (see all 2)	13422-51-0	target	cofactor	36882 7599160 11955068 11752352 18565 8741039
Cyanocobalamin	Cyanocob(III)alamin (see all 3)	68-19-9	target	cofactor	19904199 17011224 16281286 16813422 16305240

10/16 Novoseek inferred 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), 16150626 (1), 12948746 (1), 19625202 (1), 16823967 (1), 1346616 (1), 16410054 (1), 10923046 (1), 17597648 (1), 17471589 (1), 15781192 (1), 17300749 (1), 17470278 (1), 17582128 (1), 17823972 (1) (see top 4)
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), 1346616 (1), 15632180 (1), 8017644 (1), 16281286 (1), 17300749 (1), 1363155 (1) (see top 4)
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), 17075691 (1) (see top 4)
propionate	60.2	10	1363155 (4), 10518277 (1), 8929440 (1), 19699272 (1)
methionine	41.9	7	9242908 (1), 10377254 (1), 16150626 (1), 20174775 (1), 8017644 (1), 9633535 (1), 15632180 (1) (see top 4)
carnitine	38.3	1	1363155 (1)
cobalt	35.8	2	9242908 (2)

Search CenterWatch for drugs/clinical trials and news about MUT / MUTA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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_000255

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000274813(uc003ozg.4)

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		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate MUT (see all 16):
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		SwitchGear 3'UTR luciferase reporter plasmid: MUT 3' UTR sequence

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Additional mRNA 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):

BF196499 AV661086 F06746 AA765845 AA232707 AV651446 AI433712 BM992658

AL702891 AA232575 AV651416 AU103579 R77502 AI241116 F07761 F04009

CA391153 AV652036 AA761038 BI766242 CA444307 AL524144 AA332189 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

(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) MUT embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTGATGTATT

About this image

MUT expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/31 selected tissues (see all 31) fully expand


Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Epithelium
esophagus ; squamous epithelial cells
breast epithelium

Intestine (Gastrointestinal Tract) fully expand to see all 3 entries
small intestine ; glandular cells
small intestine

Breast (Uncategorized) fully expand to see all 3 entries
breast ; myoepithelial cells
breast epithelium

Colon (Gastrointestinal Tract) fully expand to see all 3 entries
rectum ; glandular cells

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:

Fatty Acid Metabolism in human mouse rat

Amino Acid Metabolism II in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT

(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 common ancestor of animals.

Orthologs for MUT gene from 6/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mut^{1 , 5}	methylmalonyl-Coenzyme A mutase^{1, 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	Uncharacterized protein	86(a)	1 ↔ 1	1(139474631-139500452)
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

ENSEMBL Gene Tree for MUT (if available)
TreeFam Gene Tree for MUT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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

SNP ID	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_026610⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_026610	2	L R	mis⁴		0	--	--	--	--
VAR_026616⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_026616	2	H N	mis⁴		0	--	--	--	--
VAR_022412⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_022412	2	Q R	mis⁴		0	--	--	--	--
VAR_022404⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_022404	2	S N	mis⁴		0	--	--	--	--
VAR_004429⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_004429	2	L R	mis⁴		0	--	--	--	--
VAR_026601⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_026601	2	A E	mis⁴		0	--	--	--	--
VAR_022411⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_022411	2	K N	mis⁴		0	--	--	--	--
VAR_004422⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_004422	2	G E	mis⁴		0	--	--	--	--
VAR_026621⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_026621	2	G D	mis⁴		0	--	--	--	--
VAR_004416⁴	Methylmalonic aciduria type mut (MMAM)⁴	--	see VAR_004416	2	V D	mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for MUT (49398073 - 49431041 bp)

Structural Variations
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

SeqTarget long-range PCR primers for resequencing MUT

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 609058
OMIM disorders: 251000
UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033

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. Note=The disease is caused by mutations affecting the gene represented in

this entry

20 diseases for MUT: About MalaCards

methylmalonic acidemia methylmalonyl-coenzyme a mutase deficiency mut-related methylmalonic acidemia cblf

vitamin b12 deficiency propionic acidemia homocystinuria megaloblastic anemia

neural tube defects cytomegalovirus infection metabolic disorders hypotonia

ischemia anemia tuberculosis hepatitis c

cerebritis hepatitis prostate cancer prostatitis

5 diseases from the University of Copenhagen DISEASES database for MUT:

Methylmalonic acidemia Vitamin B12 deficiency Propionic acidemia Homocystinuria

Megaloblastic anemia

MUT for disorders About GeneDecksing

3 Novoseek inferred disease relationships for MUT gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
methylmalonic aciduria	97.1	43	12402345 (2), 19199343 (2), 19806564 (2), 16281286 (2) (see all 30)
metabolic disorder	27.7	3	16823967 (1), 18052792 (1), 7833369 (1)
acidosis	24.7	2	7833369 (1)

Genatlas disease: MUT

hyperglycinemia,ketotic methylmalonic acidemia

GeneTests: MUT
GeneReviews: MUT
Genetic Association Database (GAD): MUT
Human Genome Epidemiology (HuGE) Navigator: MUT (24 documents)

Export disorders for MUT gene to outside databases

(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)
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PubMed articles for MUT gene, integrated from 9 sources (see all 151):
(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)
[Analysis of the MUT gene mutations in patients with methylmalonic acidemia] (PubMed id 19806564)^{1, 4, 9} Wang F....Gu X. (2009)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4594	HGNC: 7526	AceView: MUT	Ensembl:ENSG00000146085	euGenes: HUgn4594
ECgene: MUT	Kegg: 4594	H-InvDB: MUT

(According to HUGE)
About This Section

(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

Intellectual Property for MUT gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MUT gene:
Search GeneIP for patents involving MUT

GeneCards and IP:
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(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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, 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, genOway)
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