LPIN1 encodes lipin 1 (890 aa). Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis and therefore controls the metabolism of fatty acids at different levels. Highest expression in Nerve Tibial (102.4 TPM) and Testis (102.2 TPM).

Myoglobinuria, acute recurrent, autosomal recessive is caused by mutations in the LPIN1 gene on chromosome 2.

The LPIN1 protein participates in LPIN1 gene:Nucleosome, LPIN1 gene:H3K4me1-nucleosomes, and 1,2-diacyl-glycerol 3-phosphate + H2O = 1,2-diacyl-glycerol + orthophosphate pathways.

LPIN1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for LPIN1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features.

No clinical trials have been registered for myoglobinuria, acute recurrent, autosomal recessive.

1 publication has been identified in PubMed for myoglobinuria, acute recurrent, autosomal recessive. Research spans Case Report / Case Series (100%).

Recent Publications

• Alabbasi L (2024). [PMID: 39156350](https://pubmed.ncbi.nlm.nih.gov/39156350/). *Cureus*. [Case Report / Case Series]