Polypeptide N-Acetylgalactosaminyltransferase 2
Das GALNT2-Gen kodiert ein Enzym, welches für die O-Glykosilierung im Golgi-Apparat verantwortlich ist. APOC3, LDLR. und VLDLR sind O-glykosiliert. Genetische Veränderungen sind mit Typ 2 Diabetes und familiärer kombinierter Hyperlipämie assoziiert.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.
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2. |
Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
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3. |
Weissglas-Volkov D et al. (2010) Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.
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4. |
Bennett EP et al. (1998) Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family.
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5. |
White T et al. (1995) Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase.
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6. |
Cheng L et al. (2004) Characterization of a novel human UDP-GalNAc transferase, pp-GalNAc-T15.
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7. |
Peng C et al. (2010) Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile.
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8. |
Khetarpal SA et al. (2016) Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
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9. |
NCBI article
NCBI 2590
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10. |
OMIM.ORG article
Omim 602274
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Update: 14. August 2020