| Type | Description |
|---|---|
| Definition | metabolism of cobalamin associated A |
| Date | Results | Publications |
|---|---|---|
| 2019-04-20 12:03:00 | The two siblings were associated with the MMAA c.365T>C variant. | 29996803 |
| 2018-06-16 10:38:00 | localization of hMMAA and its colocalization with hMCM in human | 28943303 |
| 2017-07-15 11:03:00 | A novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic academia was identified. The deletion in exon 4 of the MMAA gene (c.674 delA) is a pathogenic allele via a nucleotide frame shift resulting in a stop codon and termination of protein synthesis 38 nucleotides (12 amino acids) downstream of the deletion. | 28536607 |
| 2013-03-30 13:04:00 | Ten novel mutational MMAA variants have been identified in patients with methylmalonic aciduria. | 23026888 |
| 2011-02-26 11:10:00 | MMAA acts as a chaperone of human MCM protein. | 21138732 |
| Type | IDs |
|---|---|
| Synonymous | cblA |
| Gene |
UniProtKB-ID:
MMAA_HUMAN
UniprotKB:
Q8IVH4
UniParc:
UPI000005032D
EMBL:
AF524843,
AK126662,
AF524846,
AF524841,
BC101179,
AF524845,
AF524844,
BC101178,
AF524842,
CH471056
Ensembl:
ENSG00000151611
KO:
hsa:166785
|
| Nucleutide sequences |
EMBL-CDS:
AAI01179.1,
AAI01180.1,
EAX05036.1,
AAN77287.1,
BAG54352.1
Ensembl_TRS:
ENST00000649704,
ENST00000648388,
ENST00000649156
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497680,
ENSP00000497046,
ENSP00000497008
RefSeq:
NP_758454.1,
XP_011529988.1,
NP_001362573.1,
XP_011529986.1
|
| Others |
UniRef100:
UniRef100_Q8IVH4
UniRef90:
UniRef90_Q8IVH4
UniRef50:
UniRef50_Q8IVH4
UniGene:
Hs.452864
CCDS:
CCDS3766.1
|
| {{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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