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B3GALT6
Gene Name
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Image
No pdb structure
Gene Ontology Annotations
Cellular Component
Golgi Membrane
Golgi Medial Cisterna
Membrane
Integral Component Of Membrane
Golgi Cisterna Membrane
Molecular Function
UDP-galactose:beta-N-acetylglucosamine Beta-1,3-galactosyltransferase Activity
UDP-galactosyltransferase Activity
Galactosylxylosylprotein 3-beta-galactosyltransferase Activity
Biological Process
Carbohydrate Metabolic Process
Glycosaminoglycan Biosynthetic Process
Protein Glycosylation
Pathogenesis
Heparan Sulfate Proteoglycan Biosynthetic Process
Glycosaminoglycan Metabolic Process
Chondroitin Sulfate Metabolic Process
Chondroitin Sulfate Biosynthetic Process
Small Molecule Metabolic Process
Pathways
MPS IIIB - Sanfilippo syndrome B
Diseases of glycosylation
Heparan sulfate/heparin (HS-GAG) metabolism
Defective B4GALT7 causes EDS, progeroid type
MPS I - Hurler syndrome
MPS IX - Natowicz syndrome
Chondroitin sulfate/dermatan sulfate metabolism
Defective SLC26A2 causes chondrodysplasias
Glycosaminoglycan metabolism
Defective CHST14 causes EDS, musculocontractural type
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Defective PAPSS2 causes SEMD-PA
MPS IIIA - Sanfilippo syndrome A
Myoclonic epilepsy of Lafora
Defective CHST6 causes MCDC1
Glycogen storage diseases
MPS IIID - Sanfilippo syndrome D
A tetrasaccharide linker sequence is required for GAG synthesis
MPS IIIC - Sanfilippo syndrome C
Diseases associated with glycosaminoglycan metabolism
Mucopolysaccharidoses
Defective EXT2 causes exostoses 2
MPS II - Hunter syndrome
Defective B3GAT3 causes JDSSDHD
Defective CHST3 causes SEDCJD
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
MPS IV - Morquio syndrome A
MPS IV - Morquio syndrome B
Defective CHSY1 causes TPBS
MPS VII - Sly syndrome
Metabolism of carbohydrates
MPS VI - Maroteaux-Lamy syndrome
Drugs
Diseases
GWAS
Protein-protein Interactions
1 interactors:
XRN1
Entrez ID
126792
HPRD ID
12509
Ensembl ID
ENSG00000176022
Uniprot IDs
Q96L58
PDB IDs
Enriched GO Terms of Interacting Partners
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Nuclear MRNA Surveillance
RNA Surveillance
Histone MRNA Catabolic Process
RRNA Catabolic Process
Histone MRNA Metabolic Process
Exonucleolytic Nuclear-transcribed MRNA Catabolic Process Involved In Deadenylation-dependent Decay
Nuclear-transcribed MRNA Catabolic Process, Exonucleolytic
Nuclear-transcribed MRNA Catabolic Process, Deadenylation-dependent Decay
RRNA Metabolic Process
Nuclear-transcribed MRNA Catabolic Process
MRNA Catabolic Process
RNA Catabolic Process
Nucleic Acid Phosphodiester Bond Hydrolysis
Aromatic Compound Catabolic Process
NcRNA Metabolic Process
MRNA Metabolic Process
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