| Primary Identifier | IPR028794 | Type | Family |
| Short Name | LPIN1 |
| description | Phosphatidate phosphatase Lpin1 (or Lipin-1) belongs to the Lipin family, which consists of magnesium-dependent phosphatidate phosphatase enzymes that provide diacylglycerol for synthesis of triacylglycerol and phospholipids []. Besides the triglyceride synthesis function, Lpin1 also regulates gene expression through direct protein-protein interactions with DNA-bound transcription factors in liver []. Its interaction with the hepatocyte nuclear factor 4alpha (HNF4alpha) affects liver lipid metabolism []. Lpin1 can also activate mitochondrial fatty acid oxidative metabolism through the hepatic PGC-1alpha/PPARalpha regulatory pathway [].Defects in Lpin1 are the cause of the fatty liver dystrophy phenotype (fld) in mice []. Mutations in Lpin1 cause human myoglobinuria, acute recurrent, autosomal recessive (ARARM), which is a recurrent myoglobinuria characteried by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine []. |
