Ask about this productRelated genes to: Galnt3 Blocking Peptide
- Gene:
- GALNT3 NIH gene
- Name:
- polypeptide N-acetylgalactosaminyltransferase 3
- Previous symbol:
- -
- Synonyms:
- GalNAc-T3, HHS, HFTC
- Chromosome:
- 2q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1996-10-26
- Date modifiied:
- 2016-10-05
Related products to: Galnt3 Blocking Peptide
Related articles to: Galnt3 Blocking Peptide
- Protein glycosylation is a crucial post-translational modification. Polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3) is a glycosyltransferase that plays an essential role in various human diseases by modifying proteins, including fibroblast growth factor 23 and mucins. In non-tumor conditions, mutations in GALNT3 result in hyperphosphatemia in familial tumoral calcinosis, and its dysregulation has been linked to coronary artery disease. Notably, GALNT3 plays a seemingly opposing role in influenza A virus infection by potentially aiding early viral replication, and later exerting antiviral effects. In cancer, the functions of GALNT3 vary by context: it acts as a tumor suppressor in lung cancer but promotes tumor progression in colorectal and ovarian cancer. GALNT3 plays a context-dependent, dual role by exerting both tumor-suppressive and tumor-promoting functions in specific subtypes of pancreatic and breast cancers. This duality is influenced by the tissue environment, substrate specificity, and regulatory networks. Therefore, GALNT3 is emerging as a promising biomarker and therapeutic target across different pathological conditions owing to its pivotal role in disease processes. - Source: PubMed
Publication date: 2026/03/26
Su LinhongLin YongxiuHu XiaoxiaLiu Zhen - Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder characterized by hyperphosphatemia and ectopic calcifications. Mutations in GALNT3, which encodes a key enzyme responsible for O-glycosylation of FGF23, represent a major genetic cause of HFTC. This modification is essential for the stability and secretion of FGF23. We investigated a 4-year and 6-month-old Chinese girl with HFTC to characterize the clinical features, identify the causative variants, and explore the underlying pathogenic mechanism. Whole-exome sequencing followed by Sanger validation identified novel compound heterozygous variants in GALNT3 (c.659T>A, p.Ile220Asn and c.1850C>A, p.Ser617*). The patient exhibited hyperphosphatemia with a biochemical profile consistent with FGF23 deficiency, including extremely low intact FGF23 and elevated C-terminal fragments. Functional studies using Western blotting and wheat germ agglutinin affinity chromatography demonstrated that the mutant GALNT3 caused a severe defect in FGF23 O-glycosylation, leading to impaired secretion of intact FGF23. Glycosylated FGF23 was detected only in the medium of cells expressing wild-type GALNT3. These findings indicate that defective O-glycosylation results in failure of FGF23 secretion and functional inactivation. This study expands the mutational spectrum of GALNT3 and provides mechanistic insight into the role of GALNT3 in phosphate homeostasis. - Source: PubMed
Publication date: 2026/03/18
Gao YuanZhang CaiWu ShiminYing YanqinHou LingLiang YanLuo Xiaoping - - Source: PubMed
Publication date: 2026/03/27
Liu BingPan ShimengXiao YangLiu QianqianXu JingchaoJia Li - The molecular mechanisms causing heritable disorders of hypo- and hyperphosphatemia involving the osteocyte-derived hormone fibroblast growth factor 23 (FGF23) and its co-receptor αKlotho (KL) have sprung new concepts underlying the endocrine control of phosphate and calcium (Ca), as well as the regulation of the active form of vitamin D, 1α,25-dihydroxy vitamin D3 (1,25D). These critical developments have proven important for the understanding and treatment of both rare, Mendelian diseases as well as for important implications for common disorders of blood phosphate excess and dysregulated 1,25D metabolism, such as CKD. The heritable and acquired diseases associated with FGF23 are caused by changes in the levels and proteolytic control of this hormone, revealing novel mechanisms dictating FGF23 synthesis and systemic mineral metabolism. Further, new interactions between FGF23, 1,25D, and PTH on phosphate, Ca, and 1,25D at the molecular and genomic level are emerging particularly in the bone-kidney axis. These disorders will be reviewed herein, including considerations for genetic analyses and therapeutic strategies, recently discovered regulation of critically intertwined signaling that controls endocrine-mediated bone and mineral metabolism, as well as gaps in our current knowledge. - Source: PubMed
Solis EmmanuelWhite Kenneth EMeyer Mark B - Cerebral ischemia-reperfusion injury (CIRI) is a major cause of poor outcome after ischemic stroke, and effective therapeutic targets are lacking. This study aimed to investigate the role of polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3) in CIRI. - Source: PubMed
Fei XinyiYang JinghuiZhang RuiZhang YuYu Shan