B4GALT6
- Known as:
- B4GALT6
- Catalog number:
- 002373A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- B4GALT6
Related genes to: B4GALT6
- Gene:
- B4GALT6 NIH gene
- Name:
- beta-1,4-galactosyltransferase 6
- Previous symbol:
- -
- Synonyms:
- beta4GalT-VI
- Chromosome:
- 18q12.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-03-15
- Date modifiied:
- 2016-10-05
Related products to: B4GALT6
Related articles to: B4GALT6
- Lactosylceramide is a glycosphingolipid precursor synthesized by two dedicated galactosyltransferases, B4GALT5 and B4GALT6. The specific roles of B4GALT5 and B4GALT6 in humans have not yet been clearly defined. Here, we report the first human case with bi-allelic loss-of-function variants in B4GALT5, suggesting that intact B4GALT5 activity is indispensable for normal glycosphingolipid biosynthesis and human development. We identified bi-allelic variants in the B4GALT5 gene in a child presenting with microcephaly, mild cognitive impairment, and bilateral cataracts. B4GALT5/6 double KO cells transfected with B4GALT5 carrying either of the variants identified in the patient lacked lactosylceramide synthase activity and failed to produce glycosphingolipids. In silico analyses predicted decreased protein stability and impaired UDP-Gal binding for both B4GALT5 variants. Together, these findings indicate that both variants result in deficient B4GALT5 activity, leaving B4GALT6 as the sole source of lactosylceramide synthase activity. Consistent with this, patient plasma and fibroblasts exhibited an approximately 80% reduction in glycosphingolipid levels compared with healthy controls. Unexpectedly, when expressed in model cells human B4GALT6 displayed lower expression and lower catalytic activity, than human B4GALT5, raising questions about its capacity to compensate for B4GALT5 deficiency. In conclusion, we identified a potential new congenital disorder of glycosylation caused by deficient lactosylceramide synthase activity that may be insufficient to support glycosphingolipids synthesis at levels required for normal brain function. - Source: PubMed
Publication date: 2026/07/09
Montavoci LindaDei Cas MicheleCaretti AnnaBen Mariem OmarEberini IvanoGiaquinto LauraDe Falco AlessandroAntonietta de Matteis MariaBrunetti-Pierri NicolaTrinchera Marco - Glycosphingolipids (GSLs) represent an important group of bioactive lipids that serve both as structural components of membranes, and as signaling molecules involved in the regulation of numerous biological processes, such as control of cell growth and cell death. Their significant deregulation in colon cancer cells suggests their potential role in the disease progression. Lactosylceramide (LacCer) is a key intermediate in GSL metabolism and an important precursor of more complex GSLs. Here, we studied the impact of inhibition of LacCer synthesis (using selective targeting of specific LacCer synthases (LCS), B4GALT5 or B4GALT6, via CRISPR/Cas9-mediated gene knockdown) on control of the human DLD-1 colon adenocarcinoma cell proliferation, death and chemosensitivity. The downregulation of the selected enzymes, as verified by a decrease in respective mRNA and protein levels, significantly reduced levels of LacCers and several more complex GSLs (in particular, GM3 and GM1a gangliosides) in LCS-knockdown cells. Importantly, it enhanced the sensitivity of DLD-1 cells to the cytotoxic effects of oxaliplatin, a chemotherapy drug commonly used in colorectal cancer treatment. This was demonstrated by a general decrease in cell viability, an enhanced apoptotic cell death, caspase-8, -9, -3 cleavage/activation and cleavage of caspase substrates. We also observed a modulation of endoplasmic reticulum stress response, in particular decreased levels of ATF6, in LCS-knockdown cells treated with oxaliplatin. The present findings support the functional role of LCS in regulating the chemosensitivity of colon cancer cells towards the action of chemotherapy drugs, such as oxaliplatin, with possible further implications for the mechanisms underlying toxic action of platinum-based drugs in cancer cells. - Source: PubMed
Publication date: 2026/06/06
Lujka BarboraŠošolíková TerezaVázquez-Gómez GerardoKováč OndrejMachala MiroslavVaculová Alena HyršlováVondráček Jan - Repetitive head impacts (RHI), primarily through contact sports play and military service, are a recognized risk factor for cognitive and behavioral symptoms, as well as progressive neurodegenerative diseases such as chronic traumatic encephalopathy. While altered DNA methylation has been linked to environmental exposures and neurodegeneration, its association with RHI remains unknown. In this study, we investigated whether duration of contact sports play in a community-based aging cohort is associated with altered DNA methylation patterns. Reduced representation bisulfite sequencing on human dorsolateral frontal cortex identified 461 genome-wide significant CpG sites associated with duration of contact sports play, spanning 13 genes of which the majority were hypomethylated. The hypomethylation pattern was largely replicated in an independent cohort. Notably, , and , were hypomethylated and upregulated in the cortical sulcus of the DLFC in individuals with RHI exposure from contact sports. Furthermore, alterations of CAMK2B and B4GALT6 were observed in CTE cases. Together, these findings reveal distinct, region-specific epigenetic changes associated with contact sports exposure and provide new insights into the molecular mechanisms underlying RHI-related sequalae. - Source: PubMed
Publication date: 2026/01/07
Breen Kerry AAytan NurgulHawkins SamanthaNicks RaymondAlvarez Victor EMez JesseBlusztajn Jan KrzysztofCherry Jonathan DMcKee Ann CLin HonghuangStein Thor D - Major depressive disorder (MDD) is a significant psychiatric condition that poses a serious threat to human life, primarily due to its association with suicidal behavior. The single nucleotide polymorphism rs372369000 is a risk locus for MDD and is located within the gene. However, the biological and pathological implications of B4GALT6 in the brain concerning MDD remain unclear. - Source: PubMed
Publication date: 2025/10/19
Zhang Shi-NaLuan DiSheng Bo-YangXie BingXiao Le - Glycaemic traits such as high fasting glucose levels and insulin resistance are positively associated with the risk of type 2 diabetes and other cardiometabolic diseases. Genetic association studies have identified hundreds of associations for each glycaemic trait, yet very few studies have involved continental African populations. We report the results of genome-wide association studies (GWASs) in a pan-African cohort for four glycaemic traits, namely fasting glucose, fasting insulin, insulin resistance (HOMA-IR) and beta cell function (HOMA-B), which are quantitative variables that affect the risk of developing type 2 diabetes. - Source: PubMed
Publication date: 2025/03/01
Chebii Vivien JWade Alisha NCrowther Nigel JNonterah Engelbert AAgongo GodfredSimayi ZBoua Palwende RKisiangani IsaacRamsay MichèleChoudhury AnanyoSengupta Dhriti