IMPA1 encodes inositol monophosphatase 1 (277 aa). Phosphatase involved in the dephosphorylation of myo-inositol monophosphates to generate myo-inositol. Highest expression in Cells EBV-transformed lymphocytes (33.7 TPM) and Testis (33.6 TPM).

Intellectual disability, autosomal recessive 59 is associated with mutations in the IMPA1 gene on chromosome 8.

The IMPA1 protein participates in Synthesis of IP2, IP, and Ins in the cytosol pathway.

IMPA1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 8.7.

Genetic testing for IMPA1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 2 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 59.

2 publications have been identified in PubMed for intellectual disability, autosomal recessive 59. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Kuzucu FN (2025). [PMID: 40293582](https://pubmed.ncbi.nlm.nih.gov/40293582/). *Metab Brain Dis*. [Epidemiology / Natural History]

• Finnegan R (2024). [PMID: 39311797](https://pubmed.ncbi.nlm.nih.gov/39311797/). *Mol Genet Genomic Med*. [Case Report / Case Series]