GMPPA
Chr 2ARGDP-mannose pyrophosphorylase A
Also known as: AAMR
The protein functions as a regulatory subunit of the GDP-mannose pyrophosphorylase complex, reducing GMPPB catalytic activity and mediating allosteric feedback inhibition to regulate GDP-mannose levels required for N-linked oligosaccharide synthesis. Autosomal recessive mutations cause alacrima, achalasia, and impaired intellectual development syndrome through disrupted glycosylation pathways.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GMPPA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools