Perilipin 1
Perilipin 1 ist das Protein welches vom PLIN1-Gen kodiert wird. Es befindet sich am Rande der Fettvakuolen und steuert mit seiner Phophorilierung die Lipaseaktivität. Mutationen sind für die Austosomal dominante partielle Lipodystrophie 4 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
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9. |
OMIM.ORG article
Omim 170290
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10. |
Orphanet article
Orphanet ID 280360
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11. |
Wikipedia Artikel
Wikipedia DE (Perilipin)
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Update: 14. August 2020