Adipose Triglyceride Lipase ist ein Gen, das durch das Symbol PNPLA2 kodiert wird. Andere Namen sind: Patatin-like phospholipase domain-containing protein 2; Calcium-independent phospholipase A2; Desnutrin; IPLA2-zeta; Pigment epithelium-derived factor; TTS2.2; Transport-secretion protein 2; TTS2; PNPLA2; ATGL. Adipose Triglyceride Lipase hat eine Masse von 55.32kDa, eine Aminosäurelänge von 504, und ist an Neutral lipid storage disease with myopathy beteiligt.
Wir bieten 9 antikörper gegen Adipose Triglyceride Lipase, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF and FC mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15550674). Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes (PubMed:16239926). May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion.
Entrez Zusammenfassung
This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy.
Gewebespezifität
Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level).
Rolle bei Krankheiten
Neutral lipid storage disease with myopathy: Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells.
Posttranslationale Modifikation
Phosphorylation at Ser-404 by PKA is increased during fasting and moderate intensity exercise, and moderately increases lipolytic activity (By similarity). Phosphorylation at Ser-404 is increased upon beta-adrenergic stimulation.
Zellort
Lipid droplet. Cell membrane.
