Version 5.4
| Bos taurus Gene: MMAA | |||||||
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| Summary | |||||||
| InnateDB Gene | IDBG-629423.3 | ||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||
| Gene Symbol | MMAA | ||||||
| Gene Name | methylmalonic aciduria type A protein, mitochondrial | ||||||
| Synonyms | |||||||
| Species | Bos taurus | ||||||
| Ensembl Gene | ENSBTAG00000012800 | ||||||
| Encoded Proteins |
methylmalonic aciduria type A
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| Protein Structure | |||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||
| Entrez Gene | |||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000151611:
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] |
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| Gene Information | |||||||
| Type | Protein coding | ||||||
| Genomic Location | Chromosome 17:12818455-12831329 | ||||||
| Strand | Reverse strand | ||||||
| Band | |||||||
| Transcripts |
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| Interactions | |||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||
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Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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| Pathway Predictions based on Human Orthology Data | |||||||
| NETPATH | |||||||
| REACTOME |
Propionyl-CoA catabolism pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
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
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
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
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Mitochondrial Fatty Acid Beta-Oxidation pathway
Metabolism pathway
Metabolism of lipids and lipoproteins pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective GIF causes intrinsic factor deficiency pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective CD320 causes methylmalonic aciduria pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Metabolism of vitamins and cofactors pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defects in vitamin and cofactor metabolism pathway
Defects in cobalamin (B12) metabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
Propionyl-CoA catabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
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| KEGG | |||||||
| INOH | |||||||
| PID NCI | |||||||
| Cross-References | |||||||
| SwissProt | |||||||
| TrEMBL | A6QQK5 | ||||||
| UniProt Splice Variant | |||||||
| Entrez Gene | 511673 | ||||||
| UniGene | Bt.5496 | ||||||
| RefSeq | NM_001100342 XM_005217497 | ||||||
| HUGO | |||||||
| OMIM | |||||||
| CCDS | |||||||
| HPRD | |||||||
| IMGT | |||||||
| EMBL | BC149875 DAAA02044329 | ||||||
| GenPept | AAI49876 | ||||||
| RNA Seq Atlas | 511673 | ||||||