GYG1 encodes glycogenin 1 (350 aa). Glycogenin participates in the glycogen biosynthetic process along with glycogen synthase and glycogen branching enzyme. Highest expression in Muscle Skeletal (247.7 TPM) and Colon Sigmoid (168.1 TPM).

Glycogen storage disease XV is associated with mutations in the GYG1 gene on chromosome 3.

The GYG1 protein participates in oligo((1,4)-alpha-glucosyl) GYG1 and EPM2A:PPP1R3C:phosphoglycogen-GYG1:GYS1-a tetramer pathways.

GYG1 is classified as a druggable target (Enzyme category) with score 6.5.

Genetic testing for GYG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for glycogen storage disease XV has been reported in the published literature.

Phenotype severity distribution: 9 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

32 publications have been identified in PubMed for glycogen storage disease XV. Research spans Case Report / Case Series (34%), Epidemiology / Natural History (28%), and Review / Meta-Analysis (16%).

Recent Publications

• Visuttijai K (2026). [PMID: 42165248](https://pubmed.ncbi.nlm.nih.gov/42165248/). *J Clin Endocrinol Metab*. [Basic Science / Preclinical]

• Ono D (2026). [PMID: 41708563](https://pubmed.ncbi.nlm.nih.gov/41708563/). *Acta Neuropathol*. [Diagnostic / Biomarker]

• Mueller MM (2026). [PMID: 41948450](https://pubmed.ncbi.nlm.nih.gov/41948450/). *Orthop J Sports Med*. [Diagnostic / Biomarker]

• Huynh T (2026). [PMID: 41660530](https://pubmed.ncbi.nlm.nih.gov/41660530/). *J Lipid Atheroscler*. [Case Report / Case Series]

• Annicchiarico Petruzzelli L (2026). [PMID: 41495530](https://pubmed.ncbi.nlm.nih.gov/41495530/). *CEN Case Rep*. [Case Report / Case Series]

• Naim MH (2026). [PMID: 42157918](https://pubmed.ncbi.nlm.nih.gov/42157918/). *Health Sci Rep*. [Epidemiology / Natural History]

• Sun C (2025). [PMID: 41449474](https://pubmed.ncbi.nlm.nih.gov/41449474/). *Orphanet J Rare Dis*. [Case Report / Case Series]

• Kor D (2025). [PMID: 40760487](https://pubmed.ncbi.nlm.nih.gov/40760487/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Conner-Rilk S (2025). [PMID: 40407223](https://pubmed.ncbi.nlm.nih.gov/40407223/). *Am J Sports Med*. [Clinical Trial Publication]

• Gulten ZA (2025). [PMID: 41573607](https://pubmed.ncbi.nlm.nih.gov/41573607/). *Sisli Etfal Hastan Tip Bul*. [Epidemiology / Natural History]