Description: Homo sapiens methylmalonyl CoA mutase (MMUT), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_000255): 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]. 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. Transcript (Including UTRs) Position: hg19 chr6:49,398,073-49,431,041 Size: 32,969 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr6:49,399,441-49,427,179 Size: 27,739 Coding Exon Count: 12
ID:MUTA_HUMAN DESCRIPTION: RecName: Full=Methylmalonyl-CoA mutase, mitochondrial; Short=MCM; EC=5.4.99.2; AltName: Full=Methylmalonyl-CoA isomerase; Flags: Precursor; 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. COFACTOR: Adenosylcobalamin. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Mitochondrion matrix. DISEASE: Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM) [MIM:251000]. MMAM is 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. SIMILARITY: Belongs to the methylmalonyl-CoA mutase family. SIMILARITY: Contains 1 B12-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MUT"; WEB RESOURCE: Name=Wikipedia; Note=Methylmalonyl coenzyme A mutase entry; URL="http://en.wikipedia.org/wiki/Methylmalonyl_Coenzyme_A_mutase";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P22033
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0008152 metabolic process GO:0009235 cobalamin metabolic process GO:0009791 post-embryonic development GO:0043547 positive regulation of GTPase activity GO:0050667 homocysteine metabolic process