Ask about this productRelated genes to: ST3GAL3 antibody
- Gene:
- ST3GAL3 NIH gene
- Name:
- ST3 beta-galactoside alpha-2,3-sialyltransferase 3
- Previous symbol:
- SIAT6, MRT12
- Synonyms:
- -
- Chromosome:
- 1p34.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-09-20
- Date modifiied:
- 2018-08-06
Related products to: ST3GAL3 antibody
Related articles to: ST3GAL3 antibody
- Attention-Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3) previously implicated in ADHD, in an indigenous sample, comparing them with reference populations from the 1000 Genomes Project. Exome data from 64 individuals representing 12 Indigenous groups from the Brazilian Amazon were analyzed. Among the identified, 99 met the inclusion criteria. Four previously unreported variants in the developed reference datasets were identified in ADGRL3, DCC, and FOXP2. Significant differences in allele frequencies were observed for 56 variants compared with continental populations. Multidimensional scaling analysis indicated genetic differentiation of the Indigenous group in relation to other populations. This study highlights the distinct genetic profile of Amazonian Indigenous populations, likely shaped by demographic and evolutionary processes such as genetic drift and founder effects. The identification of exclusive variants and marked allele frequency differences reinforces the importance of including historically underrepresented populations in genomic studies related to ADHD and neurodevelopment, contributing to a broader understanding of human genetic diversity. - Source: PubMed
Publication date: 2026/08/11
de Matos Hirlesson PaixãoMonte NatashaAguiar Kaio Evandro Cardosode Cássia Calderaro RitaSantos Aline PasquiniRodrigues Juliana Carla GomesRibeiro-Dos-Santos André MaurícioDe Souza Sandro JoséRibeiro-Dos-Santos ÂndreaGuerreiro João FariasSantos Sidney Emanuel Batista DosSantos Ney Pereira Carneiro Dos - Glycosphingolipids (GSLs) are glycoconjugates in which a short and heterogeneous saccharide chain is attached to a lipid moiety called ceramide. Based on their sugar backbone, mammalian GSLs are primarily grouped into the ganglio-, lacto-/neolacto-, and globo-series. Sialic acid-containing GSLs are known as gangliosides. Complex ganglio-series gangliosides are particularly abundant in the brain, whereas simple ganglio-series gangliosides, as well as those belonging to other series or neutral GSLs, are less abundant and typical of non-neural tissues. Congenital disorders in the biosynthesis of the lipid moiety of sphingolipids (SLs) result from defects in enzymes and proteins involved in ceramide biosynthesis and transport. Congenital disorders in the biosynthesis of the sugar chain of GSLs specifically affect ganglio-series ganglioside biosynthesis and are caused by pathogenic variants in GM3 synthase (ST3GAL5) or GM2/GD2/asialo-GM2 synthase (B4GALNT1). Defective variants of the sialyltransferase ST3GAL3 and the galactosyltransferase B4GALT5 have been reported and proposed to impair GSL biosynthesis. The occurrence of these syndromes has provided new insights into the physiological and pathological roles of GSLs. Most of these disorders are associated with completely inactive enzyme variants, leading to severe neurological syndromes. Only a few cases highlighted variants that retained partial activity, resulting in milder phenotypes, which included non-syndromic intellectual disability. It is therefore conceivable that many undiagnosed patients, with mild neurological symptoms, may carry variants retaining residual enzyme activity, insufficient to ensure normal levels of brain GSLs. The purpose of this article is to encourage clinicians to look for additional GLS hereditary disorders associated with a milder phenotype. We also hope to boost future investigations by highlighting the most critical issues emerging from recent literature on SL and GSL biosynthesis and their related defects. - Source: PubMed
Publication date: 2026/07/03
Montavoci LindaDei Cas MichelePenati SaraTrinchera Marco - Cervical cancer is one of the leading malignancies in women in India, with a high mortality rate and no available targeted therapy. This is due to a dearth of understanding of the underlying mechanisms regulating cervical carcinogenesis and the distinguished behavioral patterns of HPV-associated carcinomas. This study aims to understand the associations of HPV infection and cervical cancer with aberrant glycosylation, which is an enabling factor for other hallmarks of cancer. DNA and RNA were isolated from biopsy samples of 92 CC patients. HPV 16 and 18 infection was detected by endpoint type-specific PCR. The RNA samples were processed for expression analysis of the HPV 16-E6, HPV 16-E7 and HPV 16-E2 oncogenes. Analysis of the expression of glycosylated transcripts was performed via qPCR. HPV infection was correlated with the transcript levels of ST3GAL3, ST6GAL1, FUT5 and FUT8. In HPV 16- and 18-positive patients, the transcript levels of ST3GAL3, ST6GAL1 and FUT5 were increased, whereas FUT8 transcript levels were decreased. These data depict hyperglycosylation patterns associated with HPV infection. HPV-associated cancers show downregulation of core fucosylation and upregulation of ST3GAL3, ST6GAL1 and FUT5. The behavioral pattern of HPV-associated cancer could be due to its differential association with altered glycosylation. - Source: PubMed
Publication date: 2024/11/28
Thobias Ashi RPatel Kinjal AMehta Kruti APatel Bijal MPatel Jayendra BPatel Prabhudas S - Attention-deficit/hyperactivity disorder (ADHD) and language/reading difficulties frequently co-occur. The extent of shared genetic architecture remains incompletely defined. We investigated genome-wide overlap between ADHD and four core skills: word reading, nonword reading, spelling, and phoneme awareness. - Source: PubMed
Publication date: 2026/07/18
Zhao JinzhuHuang ShiLiu WeiWang FengQian HongHu Xiaolin - Human milk oligosaccharides (HMOs) are unconjugated and structurally diverse glycans synthesized in the lactating mammary gland through the stepwise action of glycosyltransferases that extend a free lactose core. Several HMOs are capped with sialic acids, including 3'-sialyllactose (3'-SL) and 6'-sialyllactose (6'-SL), that promote early-life microbiota development and contribute to immune system and neuronal functions. These health-promoting properties make sialylated HMOs attractive biomolecules for incorporation in infant nutrition and functional food products. Mammalian cell lines lack endogenous HMO production, limiting mechanistic studies of HMO biosynthesis and constraining production strategies based on human cells. Here, we developed a human cell-based strategy for the production of the two common sialyllactose isomers 3'-SL and 6'-SL in glycoengineered human embryonic kidney (HEK293) cells. We co-expressed LALBA and B4GALT1, that together form the lactose synthase complex, to introduce free lactose biosynthesis capacity into a genetically engineered human cell line without sialylation (HEK293ΔSia). Stable expression of either ST3GAL or ST6GAL isoenzymes in HEK293ΔSia cells revealed that ST3GAL3/4/5, and especially ST3GAL5, efficiently convert lactose into 3'-SL while ST6GAL1 and ST6GAL2 produce the 6'-SL isomer. These results provide insights into the in vivo ability of sialyltransferase isoenzymes to use lactose as substrate. Establishing HMOs biosynthesis pathways into controllable human cell systems offers an alternative strategy for production of HMOs and provides a starting point to unlock biosynthesis of more complex HMOs in human cells. - Source: PubMed
Kruf StijnDelahaije Roy J B MMohamed Khadra ASchoemaker BarryNarimatsu YoshikiClausen HenrikTriantis VassilisBoltje Thomas JBüll Christian