MUT Gene

Aliases
for MUT gene

Previous GC identifers: GC06M049401 GC06M049506 GC06M049126

Summaries
for MUT gene

Genomic Views
for MUT gene

RefSeq DNA sequence:

NC_000006.11  NC_018917.1  NT_007592.15  

SwitchGear Promoter luciferase reporter plasmid: MUT promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

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

Post-translational modifications:

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	Novus Biologicals MUT Proteins Novus Biologicals MUT Lysates
	Browse Sino Biological Recombinant Proteins
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	Uscn Proteins for MUT

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

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	OriGene Antibodies (see all 2): MUT OriGene Custom Antibody Services for MUT
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	Uscn Antibodies for MUT
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	Uscn ELISAs and CLIAs for MUT

Protein Domains /
Families
for MUT gene

ProtoNet protein and cluster: P22033

Function
for MUT gene

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

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

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MUT

miRNA Products:		OriGene 3'-UTR Clone: MUT Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MUT
		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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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MUT (see all 4) OriGene shRNA RFP: MUT OriGene siRNA: MUT
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT

Pathways & Interactions
for MUT gene

	Super-pathway	contained gene-specific pathways
1	Metabolism	Metabolism 1.00 Metabolism of lipids and lipoproteins 0.34 Metabolic pathways 0.38
2	Propionyl-CoA catabolism	Propionyl-CoA catabolism 1.00 methylmalonyl pathway 0.60
3	Branched-chain amino acid catabolism	Valine, leucine and isoleucine degradation 0.39 Propanoate metabolism 0.07
4	Glyoxylate and dicarboxylate metabolism	Glyoxylate and dicarboxylate metabolism 1.00
5	2-oxoisovalerate decarboxylation to isobutanoyl-CoA	2-oxobutanoate degradation I 0.57

3 BioSystems Pathways for MUT

	methylmalonyl pathway
	2-oxobutanoate degradation I
	superpathway of methionine degradation

5        Reactome Pathways for MUT

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

4         Kegg Pathways  (Kegg details for MUT)

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

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

Drugs & Compounds
for MUT gene

Transcripts
for MUT gene

Expression
for MUT gene

MUT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGATGTATT

About this image
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: 

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MUT Browse OriGene validated miRNA SYBR primer pairs
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT

Orthologs
for MUT gene

Paralogs
for MUT gene

Genomic Variants
for MUT gene

10/559 NCBI SNPs in MUT are shown (see all 559)     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
rs1219182511,2	C	pathogenic	65379971(-)	CACACA/GTGGAC	2	H R	mis1		0	--	--	--	--
rs1219182571,2	C	pathogenic	65380015(-)	CCATCC/TGCCAG	2	R C	mis1		0	--	--	--	--
rs1219182561,2	C	pathogenic	65381371(-)	TCCAAA/TATGAT	2	N Y	mis1		1		EU	1317
rs1219182521,2	C	pathogenic	65407329(-)	AGTTGG/TTGTTT	2	G V	mis1		1		NA	4548
rs360678481,2	C	--	49126884(+)	ACACA-/ACCACAC	1	--	ds5001		0	--	--	--	--
rs1113227121,2		--	49127804(+)	CATATC/TCCAAC	1	--	ut31		1		CSA	2
rs1130259871,2	C	--	49128261(+)	AAGTAC/TAAATC	1	--	ut31		1		CSA	2
rs143411,2	C	--	49128332(-)	GTCTAA/GAATAT	1	--	ut31		1		MN	184
rs768215111,2	F	--	49129325(+)	CTTTTT/CAGTTT	1	--	int1		1		WA	118
rs94634811,2		--	49130049(+)	TTTGTG/TAGGGG	1	--	int1		0	--	--	--	--

HapMap Linkage Disequilibrium report for MUT (49398073 - 49431041 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      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

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MUT

DNA2.0 Custom Variant and Variant Library Synthesis for MUT

Disorders / Diseases
for MUT gene

20/23 diseases for MUT

3 Novoseek disease relationships for MUT gene    About this table

Publications
for MUT gene

PubMed articles for MUT gene, integrated from 9 sources (see all 149) (see top 10): (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. (2006)
2. 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)
3. 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)
4. 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)
5. Structure of the human methylmalonyl-CoA mutase (MUT) locus. (PubMed id 1980486)^{1, 2, 9} Nham S.U.... Ledley F.D. (1990)
6. 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)
7. 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)
8. 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)
9. 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)
10. Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia. (PubMed id 7912889)^{1, 2, 9} Crane A.M. and Ledley F.D. (1994)
11. Seven novel mutations in mut methylmalonic aciduria. (PubMed id 9554742)^{1, 2, 9} Adjalla C.E.... Rosenblatt D.S. (1998)
12. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
13. Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects. (PubMed id 14654360)^{1, 4} Parle-McDermott A....Kirke P.N. (2003)
14. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
15. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. (PubMed id 8990001)^{1, 2} Ledley F.D. and Rosenblatt D.S. (1997)
16. Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. (PubMed id 7909321)^{1, 2} Qureshi A.A....Rosenblatt D.S. (1994)
17. Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. (PubMed id 1351030)^{1, 2} Crane A.M.... Ledley F.D. (1992)
18. Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. (PubMed id 1670635)^{1, 2} Raff M.L.... Rosenblatt D.S. (1991)
19. Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. (PubMed id 1977311)^{1, 2} Jansen R. and Ledley F.D. (1990)
20. Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction. (PubMed id 2567699)^{1, 2} Jansen R.... Ledley F.D. (1989)
21. Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6. (PubMed id 2907507)^{1, 3} Zoghbi H.Y....Ledley F.D. (1988)
22. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia] (PubMed id 19806564)^{1, 9} Wang F....Gu X. (2009)
23. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. (PubMed id 17410422)^{1, 9} Keeratichamroen S....Svasti J. (2007)
24. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. (PubMed id 12402345)^{1, 9} Peters H.L....Ioannou P.A. (2002)
25. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. (PubMed id 17113806)^{1, 9} Lempp T.J....Baumgartner M.R. (2007)
26. Structure-based perspectives on B12-dependent enzymes. (PubMed id 9242908)^{1, 9} Ludwig M.L. and Matthews R.G. (1997)
27. Mitochondrial dysfunction in mut methylmalonic acidemia. (PubMed id 19088183)^{1, 9} Chandler R.J....Venditti C.P. (2009)
28. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. (PubMed id 17957493)^{1, 9} Merinero B....Ugarte M. (2008)
29. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). (PubMed id 17597648)^{1, 9} Horster F....Baumgartner E.R. (2007)
30. [Mutation analysis of the methylmalonyl-CoA mutase gen e in ten Mexican patients with methylmalonic acidemia]. (PubMed id 23045948)¹ Mendez S.T....Flores M.E. (2012)
31. Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
32. Protection and reactivation of human methylmalonyl-Co A mutase by MMAA protein. (PubMed id 21138732)¹ Takahashi-A8A+iguez T....Flores M.E. (2011)
33. Loss of allostery and coenzyme B12 delivery by a path ogenic mutation in adenosyltransferase. (PubMed id 21604717)¹ Lofgren M. and Banerjee R. (2011)
34. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
35. Structures of the human GTPase MMAA and vitamin B12-d ependent methylmalonyl-CoA mutase and insight into their complex formation. (PubMed id 20876572)¹ Froese D.S....Yue W.W. (2010)
36. Associations of folate, vitamin B12, homocysteine, an d folate-pathway polymorphisms with prostate-specific antigen velocity in men w ith localized prostate cancer. (PubMed id 20852008)¹ Collin S.M....Martin R.M. (2010)
37. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)¹ Flachsbart F....Nebel A. (2010)
38. Vitamin B12 and older adults. (PubMed id 19904199)⁷ Stover P.J. (2010)
39. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)¹ Richter R....Chrzanowska-Lightowlers Z.M. (2010)
40. Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 97 4 participants in the Women's Genome Health Study. (PubMed id 20031578)¹ ParAc G....Ridker P.M. (2009)
41. Brain damage by mild metabolic derangements in methylmalonic acidemia. (PubMed id 18940555)¹ Lee N.C....Hwu W.L. (2008)
42. Mitochondrial vitamin B12-binding proteins in patient s with inborn errors of cobalamin metabolism. (PubMed id 17011224)⁷ Moras E....Rosenblatt D.S. (2007)
43. Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria. (PubMed id 17728257)¹ Hubbard P.A....Drennan C.L. (2007)
44. Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA. (PubMed id 17966092)¹ Ugarte M....Perez B. (2007)
45. Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature. (PubMed id 17401587)¹ Lubrano R....Berloco P. (2007)
46. Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl. (PubMed id 17445044)¹ Oyama C....Takada G. (2007)
47. Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase. (PubMed id 16641088)¹ Padovani D....Banerjee R. (2006)
48. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
49. DFT analysis of co-alkyl and co-adenosyl vibrational modes in B12-cofactors. (PubMed id 16813422)⁷ Kozlowski P.M....Spiro T.G. (2006)
50. Co-C bond activation in methylmalonyl-CoA mutase by s tabilization of the post-homolysis product Co2+ cobalamin. (PubMed id 16305240)⁷ Brooks A.J....Brunold T.C. (2005)
51. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
52. The human plasma proteome: a nonredundant list developed by combination of four separate sources. (PubMed id 14718574)¹ Anderson N.L....Lobley A. (2004)
53. TTD: Therapeutic Target Database. (PubMed id 11752352)⁷ Chen X....Chen Y.Z. (2002)
54. Metabolic engineering of a methylmalonyl-CoA mutase-e pimerase pathway for complex polyketide biosynthesis in Escherichia coli. (PubMed id 11955068)⁷ Dayem L.C....Kealey J.T. (2002)
55. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
56. N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. (PubMed id 11528502)¹ Acquaviva C....Elion J. (2001)
57. A common mutation among blacks with mut- methylmalonic aciduria. (PubMed id 9452100)² Adjalla C.E.... Rosenblatt D.S. (1998)
58. Atypical vitamin B12-unresponsive methylmalonic acidu ria in sibship with severe progressive encephalomyelopathy: a new genetic disea se? (PubMed id 8741039)⁷ Mayatepek E....Bremer H.J. (1996)
59. The dynamics of cobalamin utilization in L-1210 mouse leukemia cells: a model of cellular cobalamin metabolism. (PubMed id 7599160)⁷ Quadros E.V. and Jacobsen D.W. (1995)
60. Methylmalonic Acidemia (PubMed id 20301409)¹ Manoli I. and Venditti C.P. (1993)
61. Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines. (PubMed id 2453061)¹ Ledley F.D....Allen R.H. (1988)
62. Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import. (PubMed id 2881300)¹ Fenton W.A....Rosenberg L.E. (1987)
63. Purification and properties of methylmalonyl coenzyme A mutase from human liver. (PubMed id 6124211)¹ Fenton W.A....Rosenberg L.E. (1982)
64. Isolation and characterization of methylmalonyl-CoA mutase from human placenta. (PubMed id 6102092)¹ Kolhouse J.F....Allen R.H. (1980)
65. Inborn errors of cobalamin metabolism: effect of coba lamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts. (PubMed id 36882)⁷ Willard H.F. and Rosenberg L.E. (1979)
66. Metabolic fate of cyanocobalamin taken up by Spiromet ra mansonoides spargana. (PubMed id 18565)⁷ Tkachuck R.D....Mueller J.F. (1977)
67. Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats. (PubMed id 24458)¹ Frenkel E.P. and Kitchens R.L. (1975)
68. Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. (PubMed id 7951229)⁹ Ogasawara M....Narisawa K. (1994)
69. Gene induction for the treatment of methylmalonic aciduria. (PubMed id 19199343)⁹ Hu R....Peters H.L. (2009)
70. Primary structure and activity of mouse methylmalonyl-CoA mutase. (PubMed id 1978672)⁹ Wilkemeyer M.F....Ledley F.D. (1990)
71. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients. (PubMed id 9929975)⁹ Mikami H....Narisawa K. (1999)
72. Mobilization of chromatin-bound Mcm proteins by micrococcal nuclease. (PubMed id 9792452)⁹ Richter A....Knippers R. (1998)
73. Properties of the human nuclear protein p85Mcm. Expression, nuclear localization and interaction with other Mcm proteins. (PubMed id 8631321)⁹ Schulte D....Knippers R. (1996)
74. Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid. (PubMed id 8929440)⁹ Narasimhan P....Sharp F.R. (1996)
75. Human protein MCM6 on HeLa cell chromatin. (PubMed id 9516426)⁹ Holthoff H.P.... Knippers R. (1998)
76. [Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP] (PubMed id 7602808)⁹ Toyo-Oka Y....Ohtani H. (1995)
77. Overexpression of human methylmalonyl CoA mutase in mice after in vivo gene transfer with asialoglycoprotein/polylysine/DNA complexes. (PubMed id 7833369)⁹ Stankovics J....Ledley F.D. (1994)
78. Propionate metabolism in cultured human cells after overexpression of recombinant methylmalonyl CoA mutase: implications for somatic gene therapy. (PubMed id 1363155)⁹ Wilkemeyer M....Ledley F.D. (1992)
79. CE assay of methylmalonyl-coenzyme-a mutase activity. (PubMed id 17516582)⁹ Carlucci F....Tabucchi A. (2007)
80. Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. (PubMed id 17075691)⁹ Sakamoto O....Tsuchiya S. (2007)
81. Three novel and six common mutations in 11 patients with methylmalonic acidemia. (PubMed id 16490061)⁹ Kobayashi A....Takahashi H. (2006)
82. Minichromosome maintenance (Mcm) proteins, cyclin B1 and D1, phosphohistone H3 and in situ DNA replication for functional analysis of vulval intraepithelial neoplasia. (PubMed id 12610511)⁹ Davidson E.J....Stern P.L. (2003)
83. Enhanced expression of Mcm proteins in cancer cells derived from uterine cervix. (PubMed id 12631269)⁹ Ishimi Y....Song S.Y. (2003)
84. Inhibition of Mcm4,6,7 helicase activity by phosphorylation with cyclin A/Cdk2. (PubMed id 10748114)⁹ Ishimi Y....Kitagawa M. (2000)
85. Theoretical analysis of the diradical nature of adeno sylcobalamin cofactor-tyrosine complex in B12-dependent mutases: inspiring PCET -driven enzymatic catalysis. (PubMed id 20387785)⁹ Kozlowski P.M....Yoshizawa K. (2010)
86. Evidence for catabolic pathway of propionate metaboli sm in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA car boxylase alpha-subunit in developing and adult rat brain. (PubMed id 19699272)⁹ Ballhausen D....Braissant O. (2009)
87. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). (PubMed id 17823972)⁹ Gradinger A.B....Rosenblatt D.S. (2007)
88. DNA replication in protein extracts from human cells requires ORC and Mcm proteins. (PubMed id 16537544)⁹ Baltin J....Knippers R. (2006)
89. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. (PubMed id 16410054)⁹ Lerner-Ellis J.P....Rosenblatt D.S. (2006)
90. Human cytomegalovirus infection leads to accumulation of geminin and inhibition of the licensing of cellular DNA replication. (PubMed id 12551974)⁹ Biswas N....Spector D.H. (2003)
91. Human Mcm proteins at a replication origin during the G1 to S phase transition. (PubMed id 12364596)⁹ Schaarschmidt D....Knippers R. (2002)
92. Stability of the replicative Mcm3 protein in proliferating and differentiating human cells. (PubMed id 9633535)⁹ Musahl C....Knippers R. (1998)
93. A human homologue of the yeast replication protein Cdc21. Interactions with other Mcm proteins. (PubMed id 7601140)⁹ Musahl C.... Knippers R. (1995)
94. Localization of the murine methylmalonyl CoA mutase (Mut) locus on chromosome 17 by in situ hybridization. (PubMed id 1973376)⁹ Threadgill D.W....Ledley F.D. (1990)
95. Restriction fragment length polymorphisms at the methylmalonyl CoA mutase locus in normal Chinese. (PubMed id 1979711)⁹ Wang T.R....Tsai H.M. (1990)
96. Stop codon read-through of a methylmalonic aciduria m utation. (PubMed id 19427250)⁹ Buck N.E....Peters H.L. (2009)
97. Pseudoexon exclusion by antisense therapy in methylma lonic aciduria (MMAuria). (PubMed id 19862841)⁹ PAcrez B....Desviat L.R. (2009)
98. Subunit organization of Mcm2-7 and the unequal role o f active sites in ATP hydrolysis and viability. (PubMed id 18662997)⁹ Bochman M.L....Schwacha A. (2008)
99. Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. (PubMed id 18052792)⁹ Chandler R.J. and Venditti C.P. (2008)
100. Functional characterization of a vitamin B12-dependent methylmalonyl pathway in Mycobacterium tuberculosis: implications for propionate metabolism during growth on fatty acids. (PubMed id 18375549)⁹ Savvi S....Dawes S.S. (2008)
101. Effects of dietary supplements of folic acid and vitamin B12 on metabolism of dairy cows in early lactation. (PubMed id 17582128)⁹ Graulet B....Girard C.L. (2007)
102. Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. (PubMed id 17470278)⁹ Chandler R.J....Venditti C.P. (2007)
103. Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. (PubMed id 16823967)⁹ Richard E....Albar J.P. (2006)
104. Characterization of selected genes upregulated in non-tuberculous European wild boar as possible correlates of resistance to Mycobacterium bovis infection. (PubMed id 16672181)⁹ Naranjo V....de la Fuente J. (2006)
105. Mutation analysis of the MCM gene in Korean patients with MMA. (PubMed id 15781199)⁹ Jung J.W....Hwang J.S. (2005)
106. Novel mutations in a Thai patient with methylmalonic acidemia. (PubMed id 12948746)⁹ Champattanachai V....Svasti J. (2003)
107. Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. (PubMed id 12514191)⁹ Leal N.A.... Bobik T.A. (2003)
108. Molecular and structural analysis of two novel mutati ons in a patient with mut(-) methylmalonyl-CoA deficiency. (PubMed id 11161845)⁹ Benoist J.F....Elion J. (2001)
109. Initiation of genome replication: assembly and disass embly of replication-competent chromatin. (PubMed id 10713440)⁹ Ritzi M. and Knippers R. (2000)
110. A polymorphic microsatellite located within the second intron of the methylmalonyl-CoA mutase (MUT) gene on SSC 1. (PubMed id 11386222)⁹ Duscher S....Brenig B. (2000)
111. Co-ordinate variations in methylmalonyl-CoA mutase and methionine synthase, and the cobalamin cofactors in human glioma cells during nitrous oxide exposure and the subsequent recovery phase. (PubMed id 10377254)⁹ Riedel B....Ueland P.M. (1999)
112. High-molecular-mass complexes of human minichromosome-maintenance proteins in mitotic cells. (PubMed id 9249019)⁹ Richter A. and Knippers R. (1997)
113. Mcm2 and Mcm3 are constitutive nuclear proteins that exhibit distinct isoforms and bind chromatin during specific cell cycle stages of Saccharomyces cerevisiae. (PubMed id 9285827)⁹ Young M.R. and Tye B.K. (1997)
114. A novel human Mcm protein: homology to the yeast replication protein Mis5 and chromosomal location. (PubMed id 8921380)⁹ Holthoff H.P....Knippers R. (1996)
115. How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 A resolution. (PubMed id 8805541)⁹ Mancia F....Evans P.R. (1996)
116. Evidence from electron paramagnetic resonance spectro scopy of the participation of radical intermediates in the reaction catalyzed b y methylmalonyl-coenzyme A mutase. (PubMed id 7721850)⁹ Padmakumar R. and Banerjee R. (1995)
117. Interactions of human nuclear proteins P1Mcm3 and P1Cdc46. (PubMed id 7705359)⁹ Burkhart R....Knippers R. (1995)
118. Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency. (PubMed id 7681251)⁹ Shevell M.I....Rosenblatt D.S. (1993)
119. Anesthetic management of a child with methylmalonyl-coenzyme A mutase deficiency. (PubMed id 1680300)⁹ Sharar S.R....Scott C.R. (1991)
120. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. (PubMed id 1968706)⁹ Ledley F.D....Lumetta M. (1990)
121. Methods to study how replication fork helicases unwin d DNA. (PubMed id 20225146)⁹ Kaplan D.L. and Bruck I. (2010)
122. Insights into lysosomal cobalamin trafficking: lesson s learned from cblF disease. (PubMed id 20174775)⁹ Gailus S....Rutsch F. (2010)
123. Functional screen of human MCM2-7 variant alleles for disease-causing potential. (PubMed id 19481678)⁹ Steere N.A....Shima N. (2009)
124. Ligand-binding by catalytically inactive mutants of t he cblB complementation group defective in human ATP:cob(I)alamin adenosyltrans ferase. (PubMed id 19625202)⁹ Zhang J....Gravel R.A. (2009)
125. Adenosyltransferase tailors and delivers coenzyme B12. (PubMed id 18264093)⁹ Padovani D....Banerjee R. (2008)
126. Regulation by SREBP-2 defines a potential link between isoprenoid and adenosylcobalamin metabolism. (PubMed id 17300749)⁹ Murphy C....Gafvels M. (2007)
127. Nascent transcription of MCM2-7 is important for nuclear localization of the minichromosome maintenance complex in G1. (PubMed id 17314407)⁹ Braun K.A. and Breeden L.L. (2007)
128. In vivo expression of human ATP:cob(I)alamin adenosyltransferase (ATR) using recombinant adeno-associated virus (rAAV) serotypes 2 and 8. (PubMed id 17471589)⁹ Erger K.E....Flotte T.R. (2007)
129. [Diagnosis and treatment of methylmalonic aciduria: a case report] (PubMed id 17432548)⁹ Mahfoud A....Perez B. (2007)
130. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. (PubMed id 16451139)⁹ Cavicchi C....Morrone A. (2006)
131. Nitric oxide scavenging by the cobalamin precursor cobinamide. (PubMed id 15632180)⁹ Broderick K.E....Boss G.R. (2005)
132. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. (PubMed id 16150626)⁹ Morel C.F....Rosenblatt D.S. (2005)
133. Prokaryotic and eukaryotic DNA helicases. Essential m olecular motor proteins for cellular machinery. (PubMed id 15128294)⁹ Tuteja N. and Tuteja R. (2004)
134. Mammalian Mcm2/4/6/7 complex forms a toroidal structure. (PubMed id 12694531)⁹ Yabuta N....Nojima H. (2003)
135. [Characterization of Amycolatopsis meditteranei U32 chromosome by pulse-field gel electrophoresis] (PubMed id 16276900)⁹ Ma W....Zhao G. (2003)
136. An automatic method to generate force-field parameters for hetero-compounds. (PubMed id 12554938)⁹ Nilsson K....Ryde U. (2003)
137. The spatio-temporal organization of DNA replication sites is identical in primary, immortalized and transformed mammalian cells. (PubMed id 12356909)⁹ Dimitrova D.S. and Berezney R. (2002)
138. Assembly of the human origin recognition complex. (PubMed id 11323433)⁹ Vashee S....Kelly T.J. (2001)
139. Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer. (PubMed id 10518277)⁹ Chang C.C....Lin C.M. (1999)
140. Selective proteolysis of the nuclear replication factor MCM3 in apoptosis. (PubMed id 9473350)⁹ Schwab B.L....Nicotera P. (1998)
141. E2F3 activity is regulated during the cell cycle and is required for the induction of S phase. (PubMed id 9679057)⁹ Leone G....Nevins J.R. (1998)
142. Protein kinase inhibition in G2 causes mammalian Mcm proteins to reassociate with chromatin and restores ability to replicate. (PubMed id 9457057)⁹ Coverley D....Laskey R.A. (1998)
143. Expression, nuclear localization and interactions of human MCM/P1 proteins. (PubMed id 9223437)⁹ Tsuruga H....Nojima H. (1997)
144. At the heart of the budding yeast cell cycle. (PubMed id 8909137)⁹ Nasmyth K. (1996)
145. Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate. (PubMed id 8804337)⁹ Treacy E....Scriver C.R. (1996)
146. Preoperative methionine loading enhances restoration of the cobalamin-dependent enzyme methionine synthase after nitrous oxide anesthesia. (PubMed id 8017644)⁹ Christensen B....Ueland P.M. (1994)
147. The P1 family: a new class of nuclear mammalian proteins related to the yeast Mcm replication proteins. (PubMed id 8265339)⁹ Hu B.... Knippers R. (1993)

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