GCSH
Chr 16ARglycine cleavage system protein H
Also known as: GCE, MMDS7, NKH
The H protein encoded by GCSH shuttles the methylamine group of glycine from the P protein to the T protein in the mitochondrial glycine cleavage system and plays a pivotal role in the lipoylation of enzymes involved in cellular energetics. Mutations cause multiple mitochondrial dysfunctions syndrome 7 with autosomal recessive inheritance. This gene shows low constraint to loss-of-function variants, suggesting tolerance to complete protein loss.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GCSH · 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