Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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

external link
2.

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

external link
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.

external link
4.

Bennett EP et al. (1998) Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family.

external link
5.

White T et al. (1995) Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase.

external link
6.

Cheng L et al. (2004) Characterization of a novel human UDP-GalNAc transferase, pp-GalNAc-T15.

external link
7.

Peng C et al. (2010) Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile.

external link
8.

Khetarpal SA et al. (2016) Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.

external link
9.

NCBI article

NCBI 2590 external link
10.

OMIM.ORG article

Omim 602274 external link
11.

Wikipedia article

Wikipedia EN (GALNT2) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits