GPT2 encodes glutamic--pyruvic transaminase 2 (523 aa). Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate Highest expression in Esophagus Mucosa (93.0 TPM) and Stomach (87.0 TPM).

Glutamate pyruvate transaminase 2 deficiency is caused by mutations in the GPT2 gene on chromosome 16.

The GPT2 protein participates in PXLP-K341-GPT2 transaminates L-Ala to form PYR and PXLP-K341-GPT2 transaminates PYR to form L-Ala pathways.

GPT2 is classified as a druggable target (Enzyme and Transcription Factor categories) with score 0.0.

Genetic testing for GPT2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 6 very common features, 11 common features.

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

No clinical trials have been registered for glutamate pyruvate transaminase 2 deficiency.

48 publications have been identified in PubMed for glutamate pyruvate transaminase 2 deficiency. Kisho has analyzed 25 by research type. Research spans Basic Science / Preclinical (48%), Review / Meta-Analysis (12%), and Case Report / Case Series (12%).

Recent Publications

• Li F (2026). [PMID: 42024472](https://pubmed.ncbi.nlm.nih.gov/42024472/). *JCI Insight*. [Basic Science / Preclinical]

• Xiong Y (2026). [PMID: 41423158](https://pubmed.ncbi.nlm.nih.gov/41423158/). *J Ethnopharmacol*. [Basic Science / Preclinical]

• Arias F (2026). [PMID: 41480893](https://pubmed.ncbi.nlm.nih.gov/41480893/). *J Med Chem*. [Clinical Trial Publication]

• Aljama C (2026). [PMID: 41166536](https://pubmed.ncbi.nlm.nih.gov/41166536/). *Respiration*. [Epidemiology / Natural History]

• Lewis CJ (2026). [PMID: 41665410](https://pubmed.ncbi.nlm.nih.gov/41665410/). *N Engl J Med*. [Clinical Trial Publication]

• Yu S (2025). [PMID: 41465598](https://pubmed.ncbi.nlm.nih.gov/41465598/). *Int J Mol Sci*. [Basic Science / Preclinical]

• Rather JI (2025). [PMID: 40182129](https://pubmed.ncbi.nlm.nih.gov/40182129/). *Clin Nephrol Case Stud*. [Case Report / Case Series]

• Boffa I (2025). [PMID: 40578401](https://pubmed.ncbi.nlm.nih.gov/40578401/). *Biochim Biophys Acta Mol Basis Dis*. [Basic Science / Preclinical]

• Yu W (2025). [PMID: 40773897](https://pubmed.ncbi.nlm.nih.gov/40773897/). *Int Immunopharmacol*. [Basic Science / Preclinical]

• Li F (2025). [PMID: 40777505](https://pubmed.ncbi.nlm.nih.gov/40777505/). *bioRxiv*. [Basic Science / Preclinical]