| Type | Description |
|---|---|
| Definition | methylmalonyl-CoA mutase |
| Date | Results | Publications |
|---|---|---|
| 2021-02-20 13:34:00 | Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress. | 32679819 |
| 2020-03-07 12:43:00 | Our study identified a novel, deleterious, heterozygous missense mutation in MUT gene in a couple and helps to consider the genetic counselling and prenatal diagnosis more seriously for this family with clinical phenotypes of organic acidemia. | 32013889 |
| 2019-12-21 11:23:00 | These data demonstrate durable functional benefit of hMUT mRNA and support development of this new class of therapy for a devastating, pediatric disorder. | 31303505 |
| 2019-12-14 10:13:00 | Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation. | 30913280 |
| 2019-10-12 11:02:00 | The gene therapy method has been described for restoring the methylmalonyl-CoA mutase activity in vitro in fibroblasts from methylmalonic aciduria patients. | 29265583 |
| Type | IDs |
|---|---|
| Synonymous | MCM, MUT |
| Gene |
UniProtKB-ID:
MUTA_HUMAN,
B2R6K1_HUMAN,
A0A024RD82_HUMAN
UniprotKB:
P22033,
B2R6K1,
A0A024RD82
UniParc:
UPI000175064D,
UPI000013DA28
EMBL:
M37501,
MF170186,
AK292568,
M37507,
BC016282,
BT007434,
KU178201,
M37499,
M37503,
M37509,
M37508,
MF170179,
AK312611,
CH471081,
M37504,
AL590668,
M65131,
M37500,
M37506,
M37510,
MF170187,
M37505
Ensembl:
ENSG00000146085
KO:
hsa:4594
|
| Nucleutide sequences |
EMBL-CDS:
AAA59569.1,
AAP36102.1,
AAH16282.1,
BAF85257.1,
AAA99226.1,
BAG35498.1,
AWH55638.1,
ALQ33659.1,
EAX04329.1,
AWH55645.1,
AWH55646.1,
EAX04330.1
Gene_ORFName:
hCG_21698
Ensembl_TRS:
ENST00000274813
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000274813
RefSeq:
XP_005249200.1,
NP_000246.2
|
| Others |
UniRef100:
UniRef100_B2R6K1,
UniRef100_P22033
UniRef90:
UniRef90_P22033
UniRef50:
UniRef50_P22033
UniGene:
Hs.485527
CCDS:
CCDS4924.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员