GLOD4
Chr 17glyoxalase domain containing 4
Also known as: C17orf25, CGI-150, HC6, HC71
The protein enables cadherin binding activity and is located in extracellular exosomes and mitochondria. Mutations in this gene cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. This gene is not highly constrained against loss-of-function variants, consistent with a recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GLOD4 · 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