Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.
| RefSeq Version | NM_000255.3, 296010795 |
| Length | 3886 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA. |
| Product | methylmalonyl-CoA mutase, mitochondrial precursor |
| Comment | 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. |
| RefSeq | NP_000246.2 |
| CDS | 266..2518 | Exon (1) | 1..226 | Exon (2) | 1..226 | Exon (3) | 227..650 | Exon (4) | 651..1018 | Exon (5) | 1019..1176 | Exon (6) | 1177..1348 | Exon (7) | 1349..1597 | Exon (8) | 1598..1709 | Exon (9) | 1710..1825 | Exon (10) | 1826..1941 | Exon (11) | 1942..2073 | Exon (12) | 2074..2221 | Exon (13) | 2222..2389 | Exon (14) | 2390..3886 |
| Translation | MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLI
WHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESN
KFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLE
KMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK
IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDE
FAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTE
QDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPK
VADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID
SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTEC
AASGDGNILALAVDASRARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSA
IKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQ
AVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN
VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV
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| Position | Chain | Variation | Link |
| 68 | + | a, t | dbSNP:3729619 |
| complement(75) | - | g, a | dbSNP:116391415 |
| 317 | + | c, t | dbSNP:121918248 |
| complement(470) | - | t, c | dbSNP:115923556 |
| 543 | + | a, g | dbSNP:121918251 |
| complement(550) | - | t, c | dbSNP:113008304 |
| 578 | + | c, t | dbSNP:121918249 |
| 587 | + | c, t | dbSNP:121918257 |
| 614 | + | g, t | dbSNP:121918253 |
| 901 | + | a, g | dbSNP:2229384 |
| 908 | + | a, g | dbSNP:121918258 |
| 920 | + | a, t | dbSNP:121918256 |
| complement(1093) | - | t, c | dbSNP:12175488 |
| 1101 | + | a, g | dbSNP:2228282 |
| 1395 | + | a, c | dbSNP:121918250 |
| 1720 | + | a, g | dbSNP:1803946 |
| 1760 | + | a, g | dbSNP:2229385 |
| 1860 | + | a, c, g | dbSNP:1141321 |
| complement(1895) | - | t, c | dbSNP:78150750 |
| complement(2057) | - | t, c | dbSNP:9473556 |
| 2132 | + | a, g | dbSNP:121918254 |
| 2217 | + | c, t | dbSNP:1136145 |
| 2276 | + | a, g | dbSNP:8589 |
| 2372 | + | c, g | dbSNP:121918255 |
| complement(2387) | - | , largedeletion | dbSNP:71794413 |
| 2415 | + | g, t | dbSNP:121918252 |
| 2548 | + | a, g | dbSNP:14341 |
| complement(2552) | - | t, c | dbSNP:75551317 |
| complement(2619) | - | t, c | dbSNP:113025987 |
| 2626 | + | a, c | dbSNP:1803945 |
| complement(2637) | - | t, a | dbSNP:79196419 |
| complement(2710) | - | , t | dbSNP:10713340 |
| complement(2711) | - | t, a | dbSNP:76470114 |
| complement(2719) | - | t, a | dbSNP:116310222 |
| complement(2719) | - | , t | dbSNP:71809455 |
| complement(2821) | - | g, a | dbSNP:113362290 |
| 2833 | + | c, g | dbSNP:1141333 |
| 2892 | + | c, g | dbSNP:1141334 |
| 2947 | + | a, t | dbSNP:1141335 |
| complement(3063) | - | t, g | dbSNP:74854132 |
| complement(3076) | - | t, c | dbSNP:111322712 |
| complement(3098) | - | t, c | dbSNP:11757098 |
| complement(3189) | - | c, a | dbSNP:76321032 |
| complement(3624..3625) | - | , t | dbSNP:71777574 |
| complement(3625..3626) | - | , t | dbSNP:76854879 |
| complement(3844) | - | t, c | dbSNP:9381784 |
| Title | Protection and reactivation of human methylmalonyl-CoA mutase by . |
| Author | Takahashi-Iniguez,T., Garcia-Arellano,H., Trujillo-Roldan,M.A. and Flores,M.E. |
| Journal | Biochem. Biophys. Res. Commun. 404 (1), 443-447 (2011) |
| Title | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study . |
| Author | Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H., Schreiber,S. and Nebel,A. |
| Journal | Mutat. Res. 694 (1-2), 13-19 (2010) |
| Title | Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation . |
| Author | Froese,D.S., Kochan,G., Muniz,J.R., Wu,X., Gileadi,C., Ugochukwu,E., Krysztofinska,E., Gravel,R.A., Oppermann,U. and Yue,W.W. |
| Journal | J. Biol. Chem. 285 (49), 38204-38213 (2010) |
| Title | Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer . |
| Author | Collin,S.M., Metcalfe,C., Refsum,H., Lewis,S.J., Smith,G.D., Cox,A., Davis,M., Marsden,G., Johnston,C., Lane,J.A., Donovan,J.L., Neal,D.E., Hamdy,F.C., Smith,A.D. and Martin,R.M. |
| Journal | Cancer Epidemiol. Biomarkers Prev. 19 (11), 2833-2838 (2010) |
| Title | Genetic variants in nuclear-encoded mitochondrial genes influence . |
| Author | Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J. |
| Journal | PLoS ONE 5 (9), E12862 (2010) |
| Title | Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase . |
| Author | Crane,A.M., Martin,L.S., Valle,D. and Ledley,F.D. |
| Journal | Hum. Genet. 89 (3), 259-264 (1992) |
| Title | Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria . |
| Author | Crane,A.M., Jansen,R., Andrews,E.R. and Ledley,F.D. |
| Journal | J. Clin. Invest. 89 (2), 385-391 (1992) |
| Title | Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation . |
| Author | Raff,M.L., Crane,A.M., Jansen,R., Ledley,F.D. and Rosenblatt,D.S. |
| Journal | J. Clin. Invest. 87 (1), 203-207 (1991) |
| Title | Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning . |
| Author | Jansen,R. and Ledley,F.D. |
| Journal | Am. J. Hum. Genet. 47 (5), 808-814 (1990) |
| Title | Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats . |
| Author | Frenkel,E.P. and Kitchens,R.L. |
| Journal | Br. J. Haematol. 31 (4), 501-513 (1975) |
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