Gene: B4GALNT3

Alternate names for this Gene: -

Gene Summary: B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]. ##Evidence-Data-START## Transcript exon combination :: AB089940.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000266383.10/ ENSP00000266383.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.33

Description of this Gene: beta-1,4-N-acetyl-galactosaminyltransferase 3

Type of Gene: protein-coding

rs11063544 in B4GALNT3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs7966590 in B4GALNT3 gene and Alkaline phosphatase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs143741106 in B4GALNT3 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs34716573 in B4GALNT3 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs11612228 in B4GALNT3 gene and Body Height PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11063544 in B4GALNT3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.