Mus musculus Gene: Mmab | |||||||||
---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||
InnateDB Gene | IDBG-192542.6 | ||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
Gene Symbol | Mmab | ||||||||
Gene Name | methylmalonic aciduria (cobalamin deficiency) type B homolog (human) | ||||||||
Synonyms | 9130222L19Rik; ATR | ||||||||
Species | Mus musculus | ||||||||
Ensembl Gene | ENSMUSG00000029575 | ||||||||
Encoded Proteins |
methylmalonic aciduria (cobalamin deficiency) type B homolog (human)
methylmalonic aciduria (cobalamin deficiency) type B homolog (human)
|
||||||||
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 ENSG00000139428:
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011] |
||||||||
Gene Information | |||||||||
Type | Protein coding | ||||||||
Genomic Location | Chromosome 5:114431034-114444059 | ||||||||
Strand | Reverse strand | ||||||||
Band | F | ||||||||
Transcripts |
|
||||||||
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.
|
||||||||
Gene Ontology | |||||||||
Molecular Function |
|
||||||||
Biological Process |
|
||||||||
Cellular Component |
|
||||||||
Orthologs | |||||||||
Species
Homo sapiens
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||
Pathways | |||||||||
NETPATH | |||||||||
REACTOME |
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Metabolism 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
Defective HLCS causes multiple carboxylase deficiency pathway
|
||||||||
KEGG |
Porphyrin and chlorophyll metabolism pathway
|
||||||||
INOH | |||||||||
PID NCI | |||||||||
Pathway Predictions based on Human Orthology Data | |||||||||
NETPATH | |||||||||
REACTOME |
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
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
|
||||||||
KEGG |
Porphyrin and chlorophyll metabolism pathway
|
||||||||
INOH | |||||||||
PID NCI | |||||||||
Cross-References | |||||||||
SwissProt | Q9D273 | ||||||||
TrEMBL | |||||||||
UniProt Splice Variant | |||||||||
Entrez Gene | 77697 | ||||||||
UniGene | Mm.105182 | ||||||||
RefSeq | NM_029956 | ||||||||
OMIM | |||||||||
CCDS | CCDS19565 | ||||||||
HPRD | |||||||||
IMGT | |||||||||
MGI ID | MGI:1924947 | ||||||||
MGI Symbol | Mmab | ||||||||
EMBL | AK020286 AK034288 AK088785 AK148421 BC022159 BC057558 | ||||||||
GenPept | AAH22159 AAH57558 BAB32055 BAC28659 BAC40571 BAE28544 | ||||||||
RNA Seq Atlas | 77697 | ||||||||