Mitochondrial methylmalonyl-CoA mutase
The MUT gene encodes a mitochondrial enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Genetests:
Related Diseases:
References:
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Crane AM et al. (1992) Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
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2. |
Rincón A et al. (2007) Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
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3. |
Takeshima Y et al. (2006) Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy.
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4. |
Cavicchi C et al. (2006) Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.
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5. |
Worgan LC et al. (2006) Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
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6. |
Martínez MA et al. (2005) Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
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7. |
Acquaviva C et al. (2005) 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.
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8. |
Champattanachai V et al. (2003) Novel mutations in a Thai patient with methylmalonic acidemia.
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9. |
Berger I et al. (2001) Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
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10. |
Adjalla CE et al. (1998) Seven novel mutations in mut methylmalonic aciduria.
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11. |
Janata J et al. (1997) Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
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12. |
Ledley FD et al. (1997) Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
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13. |
Drennan CL et al. (1996) Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.
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14. |
Ogasawara M et al. (1994) Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.
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15. |
Crane AM et al. (1994) Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
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16. |
Qureshi AA et al. (1994) Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.
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17. |
Ledley FD et al. (1988) Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
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18. |
Acquaviva C et al. (2001) N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.
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19. |
Ledley FD et al. (1990) Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
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20. |
None (1990) Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
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21. |
Jansen R et al. (1990) Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
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22. |
Crane AM et al. (1992) Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.
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23. |
Raff ML et al. (1991) Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.
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24. |
Ledley FD et al. (1990) Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
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25. |
Sertić J et al. (1990) Mapping of the L-methylmalonyl-CoA mutase gene to mouse chromosome 17.
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26. |
Threadgill DW et al. (1990) Localization of the murine methylmalonyl CoA mutase (Mut) locus on chromosome 17 by in situ hybridization.
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27. |
Nham SU et al. (1990) Structure of the human methylmalonyl-CoA mutase (MUT) locus.
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28. |
Blanché H et al. (1991) A centromere-based genetic map of the short arm of human chromosome 6.
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29. |
Ledley FD et al. (1988) Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.
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30. |
Jansen R et al. (1989) Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.
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31. |
Fenton WA et al. (1987) Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.
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32. |
Zoghbi HY et al. (1988) Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.
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33. |
NCBI article
NCBI 4594
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34. |
OMIM.ORG article
Omim 609058
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35. |
Orphanet article
Orphanet ID 123583
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36. |
Wikipedia article
Wikipedia EN (Methylmalonyl-CoA_mutase)
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Update: Aug. 14, 2020