Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Polypeptide N-acetylgalactosaminyltransferase 2

The GALNT2 gene encodes an enzyme responsible for O-glycosylation in the Golgi apparatus. APOC3, LDLR, and VLDLR are O-glycosylated. Genetic variations in that gene are associated with type 2 diabetes and familial combined hyperlipidemia.

Genetests:

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

Related Diseases:

Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

References:

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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Update: Sept. 26, 2018