Lipin-1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''LPIN1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
Lipin-1 has
phosphatidate phosphatase
The enzyme phosphatidate phosphatase (PAP, EC 3.1.3.4) is a key regulatory enzyme in lipid metabolism, catalyzing the conversion of phosphatidate to diacylglycerol:
:a 1,2-diacylglycerol 3-phosphate + H2O \rightleftharpoons a 1,2-diacyl-''sn''-gl ...
activity.
The nuclear localization of Lipin 1 is regulated by the mammalian Target Of Rapamycin protein kinase and links
mTORC1
mTORC1, also known as mammalian target of rapamycin complex 1 or mechanistic target of rapamycin complex 1, is a protein complex that functions as a nutrient/energy/redox sensor and controls protein synthesis.
mTOR Complex 1 (mTORC1) is compo ...
activity to the regulation of Sterol regulatory element-binding proteins (
SREBP)-dependent gene transcription.
Clinical significance
Homozygous mutations in ''LPIN1'' gene in humans cause recurrent rhabdomyolysis and exercise-induced myalgia while carrier state may predispose for statin-induced myopathy.
This gene also represents a candidate gene for human
lipodystrophy, characterized by loss of body fat, fatty liver,
hypertriglyceridemia, and
insulin resistance
Insulin resistance (IR) is a pathological condition in which cell (biology), cells fail to respond normally to the hormone insulin.
Insulin is a hormone that facilitates the transport of glucose from blood into cells, thereby reducing blood gluco ...
. Mouse studies suggest that this gene functions during normal adipose tissue development and may also play a role in human triglyceride metabolism.
References
Further reading
*
*
*
*
*
*
*
*
*
{{gene-2-stub