Homo sapiens Gene: MMAA
Summary
InnateDB Gene IDBG-39992.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MMAA
Gene Name methylmalonic aciduria (cobalamin deficiency) cblA type
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000151611
Encoded Proteins
methylmalonic aciduria (cobalamin deficiency) cblA type
methylmalonic aciduria (cobalamin deficiency) cblA type
methylmalonic aciduria (cobalamin deficiency) cblA type
Protein Structure
Entrez Gene
Summary The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:145618263-145660035
Strand Forward strand
Band q31.21
Transcripts
ENST00000281317 ENSP00000281317
ENST00000506919
ENST00000511969 ENSP00000427422
ENST00000503730
ENST00000541599 ENSP00000442284
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005525 GTP binding
GO:0017111 nucleoside-triphosphatase activity
Biological Process
GO:0006635 fatty acid beta-oxidation
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0009235 cobalamin metabolic process
GO:0009236 cobalamin biosynthetic process
GO:0019626 short-chain fatty acid catabolic process
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Propionyl-CoA catabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Mitochondrial Fatty Acid Beta-Oxidation pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q8IVH4
TrEMBL D6RIS5 Q495G5 Q495G6
UniProt Splice Variant
Entrez Gene 166785
UniGene Hs.452864 Hs.599597
RefSeq NM_172250 XM_006714118
HUGO HGNC:18871
OMIM 607481
CCDS CCDS3766
HPRD 07394
IMGT
EMBL AC093864 AF524841 AF524842 AF524843 AF524844 AF524845 AF524846 AK126662 BC101178 BC101179 BC101180 BC101181 CH471056
GenPept AAI01179 AAI01180 AAI01181 AAI01182 AAN77287 BAG54352 EAX05036
ImmGen MMAA (murine)
RNA Seq Atlas 166785