| Type | Description |
|---|---|
| Definition | methylcrotonoyl-CoA carboxylase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-16 12:18:00 | Mutation in the methylcrotonoyl-CoA carboxylase gene is associated with 3-Methylcrotonyl-CoA carboxylase deficiency leading to feeding difficulties and vomiting. | 31730530 |
| 2020-01-11 10:54:00 | Mutations on MCCC1 and MCCC2 genes are the major genetic causes for the increased C5-OH in neonates | 31901042 |
| 2018-06-23 10:25:00 | MCCC1 plays an essential role in virus-triggered, MAVS-mediated activation of NF-kappaB signaling. | 27629939 |
| 2017-01-28 10:22:00 | This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically unknown significance. | 27601257 |
| 2016-12-24 11:51:00 | Our study provides strong support for the susceptibility role of RAB7L1/NUCKS1 rs823118 and MCCC1 rs12637471 in sporadic Parkinson's disease in a Han Chinese population | 26914237 |
| Type | IDs |
|---|---|
| Synonymous | MCC-B, MCCA |
| Gene |
UniProtKB-ID:
MCCA_HUMAN,
A0A0S2Z693_HUMAN,
Q68D27_HUMAN
UniprotKB:
Q96RQ3,
A0A0S2Z693,
Q68D27
UniParc:
UPI000013D646,
UPI000041A17B
EMBL:
KU178727,
AK023051,
BC004187,
AB209737,
AB029826,
CR749608,
BC004214,
AF310972,
AF310339,
AF297332
Ensembl:
ENSG00000078070
KO:
hsa:56922
|
| Nucleutide sequences |
EMBL-CDS:
AAG50245.1,
BAB14377.1,
AAG53095.1,
AAH04187.1,
AAH04214.1,
BAA99407.1,
BAD92974.1,
AAK67986.1,
ALQ34185.1,
CAH18403.1
Ensembl_TRS:
ENST00000265594
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000265594
RefSeq:
XP_011511294.1,
NP_001350809.1,
NP_064551.3,
NP_001280202.1
|
| Others |
UniRef100:
UniRef100_Q68D27,
UniRef100_Q96RQ3
UniRef90:
UniRef90_Q96RQ3,
UniRef90_Q68D27
UniRef50:
UniRef50_Q68D27,
UniRef50_Q96RQ3
UniGene:
Hs.47649
CCDS:
CCDS3241.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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