STBD1
Chr 4starch binding domain 1
The STBD1 protein acts as a cargo receptor that delivers glycogen to lysosomes through an autophagic pathway called glycophagy. Biallelic mutations cause polyglucosan body myopathy 1, an autosomal recessive disorder characterized by adult-onset progressive muscle weakness and cardiomyopathy. The gene is not constrained against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.
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
STBD1 · 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