Identity
HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
LGMDR19,MDDGA14,MDDGB14,MDDGC14
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 29925
MIM: 615320
HGNC: 22932
Ensembl: ENSG00000173540
Variants:
dbSNP: 29925
ClinVar: 29925
TCGA: ENSG00000173540
COSMIC: GMPPB
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37834154 | 2023 | Silencing GMPPB Inhibits the Proliferation and Invasion of GBM via Hippo/MMP3 Pathways. | 0 |
| 37834154 | 2023 | Silencing GMPPB Inhibits the Proliferation and Invasion of GBM via Hippo/MMP3 Pathways. | 0 |
| 34633329 | 2022 | Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation. | 3 |
| 34633329 | 2022 | Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation. | 3 |
| 34333724 | 2021 | A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. | 5 |
| 34333724 | 2021 | A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. | 5 |
| 30684953 | 2020 | Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. | 3 |
| 30684953 | 2020 | Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. | 3 |
| 29437916 | 2018 | Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. | 5 |
| 29437916 | 2018 | Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. | 5 |
| 28433477 | 2017 | Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. | 17 |
| 28478914 | 2017 | Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. | 6 |
| 28433477 | 2017 | Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. | 17 |
| 28478914 | 2017 | Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. | 6 |
| 27147698 | 2016 | Clinical features of the myasthenic syndrome arising from mutations in GMPPB. | 19 |
Citation
Dessen P
GMPPB (GDP-mannose pyrophosphorylase B)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63857/gmppb-(gdp-mannose-pyrophosphorylase-b)
