GMPPB encodes GDP-mannose pyrophosphorylase B (360 aa). Catalytic subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex. Highest expression in Pituitary (56.4 TPM) and Thyroid (41.5 TPM).

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 is associated with mutations in the GMPPB gene on chromosome 3.

The GMPPB protein participates in GMPPB converts Mannose-1-phosphate to GDP-Mannose pathway.

GMPPB is classified as a druggable target (Enzyme category) with score 0.0.

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

Biomarker and diagnostic research for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 7 common features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14.

157 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (15%).

Recent Publications

• Yu Y (2026). [PMID: 41782369](https://pubmed.ncbi.nlm.nih.gov/41782369/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]

• Moore D (2026). [PMID: 42619265](https://pubmed.ncbi.nlm.nih.gov/42619265/). *Mol Ther*. [Basic Science / Preclinical]

• Marozzi J (2026). [PMID: 41285026](https://pubmed.ncbi.nlm.nih.gov/41285026/). *Hum Reprod*. [Epidemiology / Natural History]

• Nascimento A (2026). [PMID: 42659544](https://pubmed.ncbi.nlm.nih.gov/42659544/). *Medicina (B Aires)*. [Review / Meta-Analysis]

• Johari M (2026). [PMID: 41678358](https://pubmed.ncbi.nlm.nih.gov/41678358/). *Brain : a journal of neurology*. [Basic Science / Preclinical]

• Rossini E (2026). [PMID: 41251564](https://pubmed.ncbi.nlm.nih.gov/41251564/). *Muscle & nerve*. [Epidemiology / Natural History]

• López-Márquez A (2026). [PMID: 41287928](https://pubmed.ncbi.nlm.nih.gov/41287928/). *Disease models & mechanisms*. [Basic Science / Preclinical]

• Schedel J (2026). [PMID: 41856211](https://pubmed.ncbi.nlm.nih.gov/41856211/). *Matrix Biol*. [Basic Science / Preclinical]

• McDonald CM (2026). [PMID: 42526472](https://pubmed.ncbi.nlm.nih.gov/42526472/). *Lancet*. [Clinical Trial Publication]

• Muelas N (2026). [PMID: 41054283](https://pubmed.ncbi.nlm.nih.gov/41054283/). *Annals of clinical and translational neurology*. [Review / Meta-Analysis]