MUT Gene

Aliases
for MUT gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC06M049401 GC06M049506 GC06M049126

Summaries
for MUT gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000006.11  NT_007592.16  NC_018917.2  

SwitchGear Promoter luciferase reporter plasmid: MUT promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUT

MUT 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)

Proteins
for MUT gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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3 PDB 3D structures from and Proteopedia for MUT:

2XIJ (3D)        2XIQ (3D)        3BIC (3D)    

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

Explore proteomics data for MUT at MOPED

Post-translational modifications: 

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Domains /
Families
for MUT gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P22033

Find genes that share domains with MUT           About GenesLikeMe

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, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

(inferred from 2 alleles) (MGI details for Mut)

genOway: Develop your customized and physiologically relevant rodent model for MUT

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		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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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT

Localization
for MUT gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
mitochondrion	5
cytosol	2
nucleus	2
endoplasmic reticulum	1
extracellular	1
plasma membrane	1

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Gene Ontology (GO): 2 cellular component terms:    About this table

Pathways & Interactions
for MUT gene

(SuperPaths according to PathCards, Pathways according to 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 GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for MUT About   (see all 8)   See pathways by source

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	SuperPath	Selected contained pathways About (see all per SuperPath)
1	Fatty acid, triacylglycerol, and ketone body metabolism	Fatty acid, triacylglycerol, and ketone body metabolism 0.65 Mitochondrial Fatty Acid Beta-Oxidation 0.00 Propionyl-CoA catabolism 0.00 methylmalonyl pathway 0.00
2	Metabolism	Metabolism 0.38 Metabolism of lipids and lipoproteins 0.37 Metabolic pathways 0.38
3	Defective BTD causes biotidinase deficiency	Defective BTD causes biotidinase deficiency 1.00 Defects in vitamin and cofactor metabolism 1.00 Defective MMAA causes methylmalonic aciduria type cblA 1.00 Defective MTR causes methylmalonic aciduria and homocystinuria type cblG 1.00 Defects in cobalamin (B12) metabolism 1.00 Defective GIF causes intrinsic factor deficiency 1.00 Defects in biotin (Btn) metabolism 1.00 Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE 1.00
4	Valine, leucine and isoleucine degradation	Valine, leucine and isoleucine degradation 0.31 Propanoate metabolism 0.31
5	superpathway of methionine degradation	superpathway of methionine degradation 2-oxobutanoate degradation I 0.00

3 BioSystems Pathways for MUT

	methylmalonyl pathway
	superpathway of methionine degradation
	2-oxobutanoate degradation I

4 Reactome Pathways for MUT

	Propionyl-CoA catabolism
	Defective MMAA causes methylmalonic aciduria type cblA
	Cobalamin (Cbl, vitamin B12) transport and metabolism
	Defective MUT causes methylmalonic aciduria mut type

5 Kegg Pathways  (Kegg details for MUT)

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

Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

Drugs & Compounds
for MUT gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for MUT gene

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MUT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTGATGTATT

About this image

Brain (Nervous System)    fully expand to see all 3 entries
Cerebral Cortex
Ovary (Reproductive System)    fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct
Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast
Pancreas (Endocrine System)
Islets of Langerhans
Testis (Reproductive System)
Leydig Cells Testis Interstitium

Primer Products:		OriGene qPCR primer pairs and template standards for MUT OriGene qSTAR qPCR primer pairs in human, mouse for MUT
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MUT
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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)
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Paralogs
for MUT gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Genomic Variants
for MUT gene

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MUT (see all 749)    About this table

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
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1219182571,2,,4	C	Methylmalonic aciduria type mut (MMAM)4 pathogenic1	49340915(-)	CCATCC/TGCCAG	2	R C	mis1		0	--	--	--	--
rs1219182511,2,,4	C	Methylmalonic aciduria type mut (MMAM)4 pathogenic1	49340959(-)	CACACA/GTGGAC	2	H R	mis1		0	--	--	--	--
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	--	--	--	--

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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing MUT

DNA2.0 Custom Variant and Variant Library Synthesis for 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, Sets of similar genes according to GenesLikeMe)
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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

5 diseases for MUT:    
About MalaCards

3 Novoseek inferred disease relationships for MUT gene    About this table

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)
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PubMed articles for MUT gene, integrated from 10 sources (see all 153): (articles sorted by number of sources associating them with MUT)

Utopia: connect your pdf to the dynamic world of online information

1. 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. (Hum. Mutat. 2006)
2. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. (PubMed id 19806564)^{1, 4, 9} Wang F....Gu X. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009)
3. 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. (Mol. Genet. Metab. 2005)
4. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. (PubMed id 9503014)^{1, 3, 9} MA1cher G....Zerres K. (Genomics 1998)
5. 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. (J. Clin. Invest. 1992)
6. Structure of the human methylmalonyl-CoA mutase (MUT) locus. (PubMed id 1980486)^{1, 2, 9} Nham S.U.... Ledley F.D. (Genomics 1990)
7. 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. (Hum. Mutat. 2005)
8. Mutation analysis of the MCM gene in Israeli patients with mut(0) disease. (PubMed id 11350191)^{1, 2, 9} Berger I.... Elpeleg O.N. (Mol. Genet. Metab. 2001)
9. 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. (Hum. Mutat. 2000)
10. 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. (Hum. Mol. Genet. 1997)

External Searches for MUT gene

Genome Databases showing MUT gene

Other Databases showing MUT gene

Specialized Databases showing MUT gene

Products
for MUT gene

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Advanced Cell Diagnostics, Animal models from genOway)
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