GALNT14 Chromosome 2
Polypeptide N-acetylgalactosaminyltransferase 14
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What This Gene Does
This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
Polypeptide N-acetylgalactosaminyltransferases
Locus Type
gene with protein product
Location
2p23.1
Ensembl
ENSG00000158089
Associated Conditions (1)
Non-immune hydrops fetalis
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201118996 | Health Risk | Pathogenic | Non-immune hydrops fetalis, Non-immune hydrops fetalis |