Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial partial lipodystrophy type 4
PLIN1

References:

1.

Gandotra S et al. (2011) Perilipin deficiency and autosomal dominant partial lipodystrophy.

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2.

Martinez-Botas J et al. (2000) Absence of perilipin results in leanness and reverses obesity in Lepr(db/db) mice.

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3.

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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4.

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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5.

Tanigawa K et al. (2008) Expression of adipose differentiation-related protein (ADRP) and perilipin in macrophages infected with Mycobacterium leprae.

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6.

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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7.

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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8.

NCBI article

NCBI 5346 external link
9.

OMIM.ORG article

Omim 170290 external link
10.

Orphanet article

Orphanet ID 280360 external link
11.

Wikipedia article

Wikipedia EN (Perilipin-1) external link
Update: Aug. 14, 2020
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