Entity Details

Primary name B3GLCT
Entity type gene
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Details

PrimaryID145173
RefseqGeneNG_011732
SymbolB3GLCT
Namebeta 3-glucosyltransferase
Chromosome13
Location13q12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsB3GLT_HUMAN

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0006004 fucose metabolic process
GO:0008375 acetylglucosaminyltransferase activity
GO:0016021 integral component of membrane
GO:0036066 protein O-linked fucosylation

Diseases

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Disease IDSourceNameDescription
261540 OMIMPeters-plus syndrome (PTRPLS)An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. The disease is caused by variants affecting the gene represented in this entry.