B4GALT7

Gene Name		xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
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Gene Ontology Annotations	Cellular Component	Golgi Membrane Golgi Apparatus Integral Component Of Membrane Golgi Cisterna Membrane
	Molecular Function	Beta-N-acetylglucosaminylglycopeptide Beta-1,4-galactosyltransferase Activity Galactosyltransferase Activity Manganese Ion Binding Xylosylprotein 4-beta-galactosyltransferase Activity
	Biological Process	Carbohydrate Metabolic Process Glycosaminoglycan Biosynthetic Process Proteoglycan Metabolic Process Cellular Protein Modification Process Protein N-linked Glycosylation Pathogenesis Glycosaminoglycan Metabolic Process Chondroitin Sulfate Metabolic Process Extracellular Fibril Organization Small Molecule Metabolic Process Negative Regulation Of Fibroblast Proliferation
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		3 interactors: KRTAP10-3 KRTAP10-7 RABGGTB
Entrez ID		11285
HPRD ID		05060
Ensembl ID		ENSG00000027847
Uniprot IDs		Q9UBV7
PDB IDs		4IRP 4IRQ
Enriched GO Terms of Interacting Partners?		Protein Geranylgeranylation Protein Prenylation Visual Perception Sensory Perception Of Light Stimulus
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