| Type | Description |
|---|---|
| Definition | metabolism of cobalamin associated C |
| Date | Results | Publications |
|---|---|---|
| 2021-01-23 13:01:00 | Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene. | 32058304 |
| 2021-01-16 15:54:00 | The human B12 trafficking protein CblC processes nitrocobalamin. | 32457044 |
| 2020-11-21 13:34:00 | [Screening for carriers of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao]. | 32605346 |
| 2020-04-04 11:42:00 | THAP11F80L exhibited a strong effect on association with the MMACHC promoter and led to a decrease in MMACHC gene transcription, suggesting that the THAP11F80L mutation is directly responsible for the observed cobalamin disorder | 31905202 |
| 2019-03-16 11:11:00 | These data show that the processing of cobalamin in cytoplasm occurs in a multiprotein complex composed of at least methionine synthase, methionine synthase reductase, MMACHC and MMADHC. | 27771510 |
| Type | IDs |
|---|---|
| Synonymous | cblC |
| Gene |
UniProtKB-ID:
MMAC_HUMAN,
A0A0C4DGU2_HUMAN
UniprotKB:
Q9Y4U1,
A0A0C4DGU2
UniParc:
UPI00001C1D6D,
UPI000006F7EB
EMBL:
BC006122,
AL080062,
AL451136
Ensembl:
ENSG00000132763
KO:
hsa:25974
|
| Nucleutide sequences |
EMBL-CDS:
CAB45693.2,
AAH06122.3
Ensembl_TRS:
ENST00000401061,
ENST00000616135
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000383840,
ENSP00000478859
RefSeq:
XP_005270781.1,
NP_056321.2,
NP_001317469.1
|
| Others |
UniRef100:
UniRef100_Q9Y4U1
UniRef90:
UniRef90_Q9Y4U1
UniRef50:
UniRef50_Q9Y4U1
UniGene:
Hs.13024
CCDS:
CCDS41324.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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