| Type | Description |
|---|---|
| Definition | metabolism of cobalamin associated D |
| Date | Results | Publications |
|---|---|---|
| 2020-02-01 12:22:00 | The study of genes involved in methylmalonic acidaemia with homocystinuria detected a homozygous mutation (c.748C>T) in the MMADHC gene (found in the DNA of both sisters), which generates a stop codon that results in a truncated protein, provoking the disease. | 28939051 |
| 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 |
| 2016-04-23 10:57:00 | the MMACHC-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl binding site | 26483544 |
| 2016-04-23 10:26:00 | analysis of crystal structure of the globular C-terminal domain of human CblD, which is sufficient for its interaction with MMADHC or CblC, and for supporting the cytoplasmic cobalamin trafficking pathway | 26364851 |
| 2015-05-16 10:36:00 | specific regions of MMADHC are involved in differential regulation of adenosylcobalamin and methylcobalamin synthesis | 24722857 |
| Type | IDs |
|---|---|
| Synonymous | C2orf25, CL25022, cblD |
| Gene |
UniProtKB-ID:
MMAD_HUMAN
UniprotKB:
Q9H3L0
UniParc:
UPI0000073FE2
EMBL:
AK313284,
BC023995,
BC022859,
AF161510,
BC010894,
BC000932,
AF131802,
AF060224,
AC110782,
CH471058
Ensembl:
ENSG00000168288
KO:
hsa:27249
|
| Nucleutide sequences |
EMBL-CDS:
EAX11534.1,
AAY14891.1,
AAF29125.1,
EAX11533.1,
EAX11535.1,
EAX11537.1,
AAH10894.1,
AAH22859.1,
BAG36092.1,
AAG43124.1,
AAH00932.1,
AAH23995.1,
AAD20048.1
Gene_ORFName:
My011,
HSPC161
Ensembl_TRS:
ENST00000303319,
ENST00000428879
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000389060,
ENSP00000301920
RefSeq:
NP_056517.1
|
| Others |
UniRef100:
UniRef100_Q9H3L0
UniRef90:
UniRef90_Q9H3L0
UniRef50:
UniRef50_Q9H3L0
UniGene:
Hs.5324
CCDS:
CCDS2189.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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