| Type | Description |
|---|---|
| Definition | GDP-mannose pyrophosphorylase B |
| Date | Results | Publications |
|---|---|---|
| 2021-03-20 13:23:00 | Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. | 30684953 |
| 2019-10-05 10:58:00 | Data demonstrates that a change in beta-dystroglycan electrophoretic mobility in patients with muscular dystrophy is a distinctive marker of the molecular defect in GMPPB. | 29437916 |
| 2018-03-17 11:35:00 | Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. | 28478914 |
| 2018-03-17 10:04:00 | Study finds that the GMPPB mutation spectrum in Chinese patients may differ from that of European populations, with the mutation p.(Arg357His) most frequently found. These mutations may lead to abnormal folding of GMPPB leading to protein aggregates in the cytoplasm rather than an overall loss in protein expression. | 28433477 |
| 2017-05-27 11:43:00 | Patients with GMPPB-CMS have phenotypic features aligned with CMS subtypes harbouring mutations within the early stages of the glycosylation pathway. Additional features shared with the dystroglycanopathies include myopathic features, raised Creatine Kinase levels and variable mild cognitive delay. | 27147698 |
| Type | IDs |
|---|---|
| Synonymous | LGMDR19, MDDGA14, MDDGB14, MDDGC14 |
| Gene |
UniProtKB-ID:
GMPPB_HUMAN
UniprotKB:
Q9Y5P6
UniParc:
UPI000013ED26,
UPI000013ED31
EMBL:
AC099668,
AF135421,
AK024319,
BC001141,
BC008033,
AK291700
Ensembl:
ENSG00000173540
KO:
hsa:29925
|
| Nucleutide sequences |
EMBL-CDS:
AAH01141.1,
AAH08033.1,
BAB14882.1,
BAF84389.1,
AAD38516.1
Ensembl_TRS:
ENST00000308375,
ENST00000480687,
ENST00000308388
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000311130,
ENSP00000418565,
ENSP00000309092
RefSeq:
NP_068806.2,
NP_037466.3
|
| Others |
UniRef100:
UniRef100_Q9Y5P6
UniRef90:
UniRef90_Q9Y5P6
UniRef50:
UniRef50_Q9Y5P6
UniGene:
Hs.567488
CCDS:
CCDS2803.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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