GLDC
Chr 9ARglycine decarboxylase
Also known as: GCE, GCE1, GCSP, HYGN1
The P protein (GLDC) is a pyridoxal phosphate-dependent glycine decarboxylase that binds glycine and transfers its methylamine group to the H protein as part of the four-component mitochondrial glycine cleavage system that degrades glycine. Mutations cause glycine encephalopathy (nonketotic hyperglycinemia), a severe neurometabolic disorder with autosomal recessive inheritance. The gene shows very low constraint against loss-of-function variants, consistent with the recessive inheritance pattern of this devastating early-onset encephalopathy.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GLDC · 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