STBD1

Chr 4

starch binding domain 1

Also known as: GENEX3414, GENX-3414

NCBI Gene: 8987 ENSG00000118804 UniProt: O95210 OMIM: 607406

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables enzyme binding activity and glycogen binding activity. Involved in glycophagy and intracellular transport. Located in T-tubule; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.85

LOEUF

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Mechanism