| Type | Description |
|---|---|
| Definition | phosphomannomutase 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:23:00 | In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report. | 32630370 |
| 2021-02-06 13:56:00 | Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe. | 31981409 |
| 2021-01-09 13:27:00 | Proteostasis regulators as potential rescuers of PMM2 activity. | 32222543 |
| 2020-12-05 13:03:00 | Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency. | 31902100 |
| 2020-06-13 10:13:00 | Both observational and experimental findings suggest that hypolipidaemia in PMM2-CDG may be partially mediated by loss of PCSK9 N-glycosylation and/or its regulators. | 31391289 |
| Type | IDs |
|---|---|
| Synonymous | CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2 |
| Gene |
UniProtKB-ID:
PMM2_HUMAN,
A0A0S2Z4J6_HUMAN,
Q59F02_HUMAN
UniprotKB:
O15305,
A0A0S2Z4J6,
Q59F02
UniParc:
UPI0000EE6790,
UPI00004F6DAD,
UPI00000302B7
EMBL:
AF157791,
AF157796,
AF157795,
AF157793,
AF157790,
AB209659,
U85773,
AK291537,
KU178265,
BC008310,
AK300785,
AC012173,
CH471112,
AF157792,
AF157794
Ensembl:
ENSG00000140650
KO:
hsa:5373
|
| Nucleutide sequences |
EMBL-CDS:
AAD45895.1,
BAH13346.1,
EAW85200.1,
AAH08310.1,
EAW85203.1,
EAW85202.1,
BAF84226.1,
AAC51368.1,
EAW85201.1,
ALQ33723.1,
BAD92896.1
Ensembl_TRS:
ENST00000268261,
ENST00000566604
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000456774,
ENSP00000268261
RefSeq:
NP_000294.1,
XP_005255431.1
|
| Others |
UniRef100:
UniRef100_O15305,
UniRef100_Q59F02
UniRef90:
UniRef90_O15305,
UniRef90_Q59F02
UniRef50:
UniRef50_O15305,
UniRef50_A0A2Y9LRH1
UniGene:
Hs.625732
CCDS:
CCDS10536.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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