Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Angiopoietin-related Protein 4

Das ANGPTL4-Gen kodiert ein glycosiliertes Hormon welches in der Regulation der Glukose-Homöostase, des Lipidstoffwechsels und der Insulin-Sensitivität beteiligt ist. Mutationen werden im Zusammenhang mit familiärer Hypertrigylceridämie gesehen.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Veranlagung für hohe Triglyceridwerte
ANGPTL4

Referenzen:

1.

Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

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2.

Zheng J et al. (2012) Inhibitory receptors bind ANGPTLs and support blood stem cells and leukaemia development.

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3.

Romeo S et al. (2009) Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

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4.

Dewey FE et al. (2016) Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.

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5.

Kersten S et al. (2000) Characterization of the fasting-induced adipose factor FIAF, a novel peroxisome proliferator-activated receptor target gene.

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6.

Yoon JC et al. (2000) Peroxisome proliferator-activated receptor gamma target gene encoding a novel angiopoietin-related protein associated with adipose differentiation.

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7.

Bäckhed F et al. (2004) The gut microbiota as an environmental factor that regulates fat storage.

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8.

Minn AJ et al. (2005) Genes that mediate breast cancer metastasis to lung.

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9.

Sukonina V et al. (2006) Angiopoietin-like protein 4 converts lipoprotein lipase to inactive monomers and modulates lipase activity in adipose tissue.

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10.

Galaup A et al. (2006) Angiopoietin-like 4 prevents metastasis through inhibition of vascular permeability and tumor cell motility and invasiveness.

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11.

Romeo S et al. (2007) Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

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12.

Padua D et al. (2008) TGFbeta primes breast tumors for lung metastasis seeding through angiopoietin-like 4.

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13.

Talmud PJ et al. (2008) ANGPTL4 E40K and T266M: effects on plasma triglyceride and HDL levels, postprandial responses, and CHD risk.

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14.

Yin W et al. (2009) Genetic variation in ANGPTL4 provides insights into protein processing and function.

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15.

NCBI article

NCBI 51129 external link
16.

OMIM.ORG article

Omim 605910 external link
Update: 14. August 2020
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