Ask about this productRelated genes to: WBSCR17 antibody
- Gene:
- GALNT17 NIH gene
- Name:
- polypeptide N-acetylgalactosaminyltransferase 17
- Previous symbol:
- WBSCR17
- Synonyms:
- GALNTL3, GalNAc-T5L, GalNAc-T19, GalNAc-T17, ppGalNAc-T17
- Chromosome:
- 7q11.22
- Locus Type:
- gene with protein product
- Date approved:
- 2001-08-08
- Date modifiied:
- 2017-05-10
Related products to: WBSCR17 antibody
Related articles to: WBSCR17 antibody
- Social interaction between the domesticated animal and the domesticator is one of the key features of the "domestication syndrome". Recent research has identified genes in the (Williams-Beuren syndrome control region) locus as significant contributors to social behavior in dogs. Large chromosomal deletions and duplications in the human locus lead to the development of WBS (Williams-Beuren syndrome) and duplication syndrome, respectively. Hypersociability is one of the key symptoms of WBS, while the duplication syndrome is manifested as an autism spectrum disorder (ASD). The data from both humans and dogs highlight the locus as one of the key genetic determinants of social behavior in mammals. Several genes in the are candidates for the regulation of social behavior in mammals including , , and . Here, we discuss the role of locus in the regulation of social behavior in mammals including the recent data that highlight the importance of 3D genome alterations in this genomic region for both domestication of animals and development of neurobehavioral disorders in humans. In addition, we bring attention to the role of the poorly characterized gene as a putative player in the development of ASD symptoms and in the regulation of social behavior in animals. We provide a brief summary of its known functions and propose the future research directions aimed at the elucidation of involvement in the regulation of central nervous system (CNS) functions. - Source: PubMed
Publication date: 2025/09/03
Shepelev Mikhail VSkobel Olga IGlazko Tatiana TPopov Dmitry VVysotskii Denis EGeorgiev Pavel GMaksimenko Oksana GKosovsky Gleb YSilaeva Yuliya Y - The Sahiwal are among the most prominent international transboundary dairy cattle distributed in large numbers between India and Pakistan. With the elapse of more than seven decades after the independence and limited cross-border exchange of Sahiwal germplasm, one thought-provoking question arises as to whether natural and artificial selection could alter the genomic signature patterns in the Sahiwal, reared for different purposes in these two countries. Deciphering the genetic mechanisms that underlie economic traits is essential for advancement and long-term breeding plans that are reflected in the distinct selection signatures they carry. To identify these genomic signatures, three medium-density SNP datasets of Sahiwal from three geographical locations of India and Pakistan were analyzed, using De-Correlated Composite of Multiple Selection Signals technique to identify the major candidate genes. In the genome of Sahiwal, a total of 70 genomic regions with 261 protein-coding genes were found. Milk production (NEK11, HMGCS1, BTN1A1,KCNH3), reproduction (SH3BGR, PSMG1, BRWD1,B3GALT5) and immune response genes (BPIFB1, MCOLN2) were more closely related to the Indian Sahiwal. Pakistani Sahiwal had genes closely linked with the dual-purpose meat (RALGAPA2, RIN2, CFAP61), and milk (SLC24A3 GALNT17, BACH2) traits. Our findings revealed differential patterns of selection signatures in transboundary Sahiwal cattle. - Source: PubMed
Publication date: 2025/05/05
Muansangi LalTiwari JigyashaIlayaraja IrusappanKumar IshmeetVyas JayeshChitra AnilSingh Sanchit PalPal PritamGowane GopalMishra A KMukherjee AnupamaMukherjee Sabyasachi - A genome-wide association study (GWAS) variant associated with Parkinson's disease (PD) risk in Asians, rs9638616, was recently reported, and maps to WBSCR17/GALNT17, which is involved in synaptic transmission and neurite development. - Source: PubMed
Welton ThomasTeo Thomas Wei JunChan Ling LingTan Eng-KingTan Louis Chew Seng - GALNT17 encodes a N-acetylgalactosaminyltransferase (GalNAc-T) protein specifically involved in mucin-type O-linked glycosylation of target proteins, a process important for cell adhesion, cell signaling, neurotransmitter activity, neurite outgrowth, and neurite sensing. GALNT17, also known as WBSCR17, is located at the edge of the Williams-Beuren Syndrome (WBS) critical region and adjacent to the AUTS2 locus, genomic regions associated with neurodevelopmental phenotypes that are thought to be co-regulated. Although previous data have implicated Galnt17 in neurodevelopment, the in vivo functions of this gene have not been investigated. In this study, we have analyzed behavioral, brain pathology, and molecular phenotypes exhibited by Galnt17 knockout (Galnt17) mice. We show that Galnt17 mutants exhibit developmental neuropathology within the cerebellar vermis, along with abnormal activity, coordination, and social interaction deficits. Transcriptomic and protein analysis revealed reductions in both mucin type O-glycosylation and heparan sulfate synthesis in the developing mutant cerebellum along with disruption of pathways central to neuron differentiation, axon pathfinding, and synaptic signaling, consistent with the mutant neuropathology. These brain and behavioral phenotypes and molecular data confirm a specific role for Galnt17 in brain development and suggest new clues to factors that could contribute to phenotypes in certain WBS and AUTS2 syndrome patients. - Source: PubMed
Publication date: 2022/08/21
Chen Chih-YingSeward Christopher HSong YunshuInamdar ManasiLeddy Analise MZhang HuiminYoo JenniferKao Wei-ChunPawlowski HannaStubbs Lisa J - Cataracts are associated with the accumulation of galactose and galactitol in the lens. We determined the polygenetic risk scores for the best model (PRSBM) associated with age-related cataract (ARC) risk and their interaction with diets and lifestyles in 40,262 Korean adults aged over 50 years belonging to a hospital-based city cohort. - Source: PubMed
Publication date: 2021/12/24
Jee DonghyunKang SunaPark Sunmin