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: 29926
MIM: 615495
HGNC: 22923
Ensembl: ENSG00000144591
Variants:
dbSNP: 29926
ClinVar: 29926
TCGA: ENSG00000144591
COSMIC: GMPPA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31898852 | 2020 | Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. | 3 |
| 31898852 | 2020 | Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. | 3 |
| 28574218 | 2017 | A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. | 5 |
| 28574218 | 2017 | A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. | 5 |
| 24035193 | 2013 | Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. | 20 |
| 24035193 | 2013 | Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. | 20 |
Citation
Dessen P
GMPPA (GDP-mannose pyrophosphorylase A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63856/gmppa-(gdp-mannose-pyrophosphorylase-a)
