Lipin-1 has
phosphatidate phosphatase activity.[9][10][11] The nuclear localization of Lipin 1 is regulated by the mammalian Target Of Rapamycin protein kinase and links
mTORC1 activity to the regulation of Sterol regulatory element-binding proteins (
SREBP)-dependent gene transcription.[12][13][14]
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.[15][16]
This gene also represents a candidate gene for human
lipodystrophy, characterized by loss of body fat, fatty liver,
hypertriglyceridemia, and
insulin resistance. Mouse studies suggest that this gene functions during normal adipose tissue development and may also play a role in human triglyceride metabolism.[8][12]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Péterfy M, Phan J, Xu P, Reue K (January 2001). "Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin". Nature Genetics. 27 (1): 121–4.
doi:
10.1038/83685.
PMID11138012.
S2CID35168517.
^Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, et al. (November 2012). "Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia". Journal of Inherited Metabolic Disease. 35 (6): 1119–28.
doi:
10.1007/s10545-012-9461-6.
hdl:11343/218103.
PMID22481384.
S2CID23610062.
Péterfy M, Phan J, Oswell GM, Xu P, Reue K (December 1999). "Genetic, physical, and transcript map of the fld region on mouse chromosome 12". Genomics. 62 (3): 436–44.
doi:
10.1006/geno.1999.6023.
PMID10644441.
Lipin-1 has
phosphatidate phosphatase activity.[9][10][11] The nuclear localization of Lipin 1 is regulated by the mammalian Target Of Rapamycin protein kinase and links
mTORC1 activity to the regulation of Sterol regulatory element-binding proteins (
SREBP)-dependent gene transcription.[12][13][14]
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.[15][16]
This gene also represents a candidate gene for human
lipodystrophy, characterized by loss of body fat, fatty liver,
hypertriglyceridemia, and
insulin resistance. Mouse studies suggest that this gene functions during normal adipose tissue development and may also play a role in human triglyceride metabolism.[8][12]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Péterfy M, Phan J, Xu P, Reue K (January 2001). "Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin". Nature Genetics. 27 (1): 121–4.
doi:
10.1038/83685.
PMID11138012.
S2CID35168517.
^Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, et al. (November 2012). "Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia". Journal of Inherited Metabolic Disease. 35 (6): 1119–28.
doi:
10.1007/s10545-012-9461-6.
hdl:11343/218103.
PMID22481384.
S2CID23610062.
Péterfy M, Phan J, Oswell GM, Xu P, Reue K (December 1999). "Genetic, physical, and transcript map of the fld region on mouse chromosome 12". Genomics. 62 (3): 436–44.
doi:
10.1006/geno.1999.6023.
PMID10644441.