| Type | Description |
|---|---|
| Definition | methylmalonyl-Coenzyme A mutase |
| Date | Results | Publications |
|---|---|---|
| 2019-03-23 11:29:00 | We confirmed significant NH4(+) accumulation in culture media of Mut(-/-) aggregates, suggesting that intracellular NH4(+) concentrations might even be higher, gave first clues on the mechanisms leading to NH4(+) accumulation in Mut(-/-) brain cells, and showed the involvement of neuroinflammatory processes in the neuropathophysiology of Methylmalonic aciduria . | 29934063 |
| 2017-05-20 10:59:00 | On a high protein diet, mutant mice display disease exacerbation, including elevated blood ammonia, and catastrophic weight loss, which, in Mut(ki/ki) mice, is rescued by hydroxocobalamin treatment. This study expands knowledge of MMAuria, introduces the discovery of new biomarkers, and constitutes the first in vivo proof of principle of cobalamin treatment in mut-type MMAuria. | 27519416 |
| 2013-03-30 13:09:00 | The mouse methylmalonic aciduria- related genes, Mmaa, Mmab, and Mut may have specialized functions depending on the tissue or cell type. | 23022071 |
| 2010-05-04 21:00:00 | Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~61%. | 19372376 |
| 2010-01-21 00:00:00 | Mitochondrial dysfunction in Mut is reported. | 19088183 |
| Type | IDs |
|---|---|
| Synonymous | D230010K02Rik, Mcm, Mut |
| Gene |
UniProtKB-ID:
MUTA_MOUSE,
Q9CSI4_MOUSE
UniprotKB:
P16332,
Q9CSI4
UniParc:
UPI00000E6A5A,
UPI00000221BE
EMBL:
AK012766,
X51941,
AK146309,
CH466559
Ensembl:
ENSMUSG00000023921
KO:
mmu:17850
|
| Nucleutide sequences |
EMBL-CDS:
EDL23389.1,
CAA36204.1,
BAE27064.1,
BAB28454.1
Ensembl_TRS:
ENSMUST00000169611
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000130941
RefSeq:
XP_017172780.1,
NP_032676.2
|
| Others |
UniRef100:
UniRef100_P16332
UniRef90:
UniRef90_P16332
UniRef50:
UniRef50_P16332
UniGene:
Mm.259884
CCDS:
CCDS37618.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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