Perilipin 1
Perilipin 1 is the protein encoded by the PLIN1 gene, It surrounds lipid storage droplets in adipocytes and by its phosphorylation regulates lipoprotein lipase activity. Mutations cause autosomal dominant partial lipodystrophy 4.
Genetests:
Related Diseases:
References:
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Gandotra S et al. (2011) Perilipin deficiency and autosomal dominant partial lipodystrophy.
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Martinez-Botas J et al. (2000) Absence of perilipin results in leanness and reverses obesity in Lepr(db/db) mice.
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Tansey JT et al. (2001) Perilipin ablation results in a lean mouse with aberrant adipocyte lipolysis, enhanced leptin production, and resistance to diet-induced obesity.
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Lu X et al. (2001) The murine perilipin gene: the lipid droplet-associated perilipins derive from tissue-specific, mRNA splice variants and define a gene family of ancient origin.
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Tanigawa K et al. (2008) Expression of adipose differentiation-related protein (ADRP) and perilipin in macrophages infected with Mycobacterium leprae.
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Greenberg AS et al. (1993) Isolation of cDNAs for perilipins A and B: sequence and expression of lipid droplet-associated proteins of adipocytes.
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Nishiu J et al. (1998) Isolation and chromosomal mapping of the human homolog of perilipin (PLIN), a rat adipose tissue-specific gene, by differential display method.
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NCBI article
NCBI 5346
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OMIM.ORG article
Omim 170290
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Orphanet article
Orphanet ID 280360
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Wikipedia article
Wikipedia EN (Perilipin-1)
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Update: Aug. 14, 2020