GNPAT encodes glyceronephosphate O-acyltransferase (680 aa). Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attache... Highest expression in Muscle Skeletal (65.5 TPM) and Cells EBV-transformed lymphocytes (55.7 TPM).

Rhizomelic chondrodysplasia punctata type 2 is associated with mutations in the GNPAT gene on chromosome 1.

The GNPAT protein participates in DHAP is converted to 1-acyl GO3P by GNPAT, palmitoyl-CoA + DHAP = 1-palmitoylglycerone phosphate + CoASH, and 1-palmitoylglycerone phosphate + hexadecanol = O-hexadecylglycerone phosphate + palmitate pathways.

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

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

Phenotype severity distribution: 19 always present features.

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

2 publications have been identified in PubMed for rhizomelic chondrodysplasia punctata type 2. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Boulling A (2025). [PMID: 40394457](https://pubmed.ncbi.nlm.nih.gov/40394457/). *Genetics, selection, evolution : GSE*. [Basic Science / Preclinical]

• Sarkar C (2024). [PMID: 39404418](https://pubmed.ncbi.nlm.nih.gov/39404418/). *Cells*. [Basic Science / Preclinical]