Gene: B3GLCT

Alternate names for this Gene: B3GALTL|B3GTL|B3Glc-T|Gal-T|beta3Glc-T

Gene Summary: The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).

Gene is located in Chromosome: 13

Location in Chromosome : 13q12.3

Description of this Gene: beta 3-glucosyltransferase

Type of Gene: protein-coding

rs9542236 in B3GLCT gene and Age related macular degeneration PMID 23455636 2013 Seven new loci associated with age-related macular degeneration.

PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs9564692 in B3GLCT gene and Exudative age-related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs9564692 in B3GLCT gene and Geographic Atrophy PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs80338851 in B3GLCT gene and Krause-Kivlin syndrome PMID 18199743 2008 Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.

PMID 23161355 2013 Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.

PMID 16909395 2006 Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

PMID 18798333 2008 Mutation analysis of B3GALTL in Peters Plus syndrome.

PMID 23889335 2014 Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

PMID 26684045 2016 Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis.

PMID 19796186 2009 Novel B3GALTL mutation in Peters-plus Syndrome.

PMID 23213277 2012 Absence of NR2E1 mutations in patients with aniridia.

rs9530139 in B3GLCT gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

rs9564692 in B3GLCT gene and exudative macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs1041073 in B3GLCT gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.