HEXB

Gene Name		hexosaminidase B (beta polypeptide)
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Gene Ontology Annotations	Cellular Component	Acrosomal Vesicle Membrane Lysosomal Lumen Extracellular Vesicular Exosome
	Molecular Function	Beta-N-acetylhexosaminidase Activity Protein Homodimerization Activity Protein Heterodimerization Activity
	Biological Process	Skeletal System Development Carbohydrate Metabolic Process Sphingolipid Metabolic Process Glycosphingolipid Metabolic Process Ganglioside Catabolic Process Cellular Calcium Ion Homeostasis Lysosome Organization Penetration Of Zona Pellucida Sensory Perception Of Sound Locomotory Behavior Male Courtship Behavior Regulation Of Cell Shape Phospholipid Biosynthetic Process Oligosaccharide Catabolic Process Pathogenesis Lipid Storage Glycosaminoglycan Metabolic Process Chondroitin Sulfate Metabolic Process Chondroitin Sulfate Catabolic Process Hyaluronan Metabolic Process Hyaluronan Catabolic Process Keratan Sulfate Metabolic Process Keratan Sulfate Catabolic Process Myelination Astrocyte Cell Migration Cellular Protein Metabolic Process Small Molecule Metabolic Process Positive Regulation Of Transcription From RNA Polymerase II Promoter Oogenesis Neuromuscular Process Controlling Balance
Pathways		MPS IIIB - Sanfilippo syndrome B Diseases of glycosylation Metabolism of lipids and lipoproteins Defective B4GALT7 causes EDS, progeroid type Keratan sulfate/keratin metabolism MPS I - Hurler syndrome MPS IX - Natowicz syndrome Chondroitin sulfate/dermatan sulfate metabolism Defective SLC26A2 causes chondrodysplasias Glycosaminoglycan metabolism CS/DS degradation Hyaluronan uptake and degradation Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Defective CHST14 causes EDS, musculocontractural type Defective PAPSS2 causes SEMD-PA MPS IIIA - Sanfilippo syndrome A Myoclonic epilepsy of Lafora Hyaluronan metabolism Defective CHST6 causes MCDC1 MPS IIID - Sanfilippo syndrome D Glycogen storage diseases MPS IIIC - Sanfilippo syndrome C Sphingolipid metabolism Diseases associated with glycosaminoglycan metabolism Mucopolysaccharidoses Keratan sulfate degradation Glycosphingolipid metabolism Defective EXT2 causes exostoses 2 MPS II - Hunter syndrome Defective CHST3 causes SEDCJD Defective B3GAT3 causes JDSSDHD 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		2-Acetamido-2-Deoxy-D-Glucono-1,5-Lactone 3ar,5r,6s,7r,7ar-5-Hydroxymethyl-2-Methyl-5,6,7,7a-Tetrahydro-3ah-Pyrano[3,2-D]Thiazole-6,7-Diol (2r,3r,4s,5r)-2-Acetamido-3,4-Dihydroxy-5-Hydroxymethyl-Piperidinium
Diseases
GWAS
Protein-protein Interactions		2 interactors: CSNK2B EIF2D
Entrez ID		3074
HPRD ID		06043
Ensembl ID		ENSG00000049860
Uniprot IDs		P07686 Q5URX0
PDB IDs		1NOU 1NOW 1NP0 1O7A 1QBD 2GJX 2GK1 3LMY
Enriched GO Terms of Interacting Partners?		IRES-dependent Translational Initiation Cap-independent Translational Initiation Ribosome Disassembly Positive Regulation Of Activin Receptor Signaling Pathway Adiponectin-activated Signaling Pathway Cellular Macromolecular Complex Assembly Cytoplasmic Translational Initiation Endothelial Tube Morphogenesis Cytoplasmic Translation Negative Regulation Of Blood Vessel Endothelial Cell Migration Formation Of Translation Preinitiation Complex Regulation Of Activin Receptor Signaling Pathway Negative Regulation Of Endothelial Cell Migration Organelle Disassembly Positive Regulation Of Pathway-restricted SMAD Protein Phosphorylation Regulation Of Blood Vessel Endothelial Cell Migration Negative Regulation Of Epithelial Cell Migration Regulation Of Pathway-restricted SMAD Protein Phosphorylation Cellular Component Assembly Regulation Of DNA Binding Endothelium Development
Tagcloud ?		1404delt 26g admitted ataxia atrophy boy cerebellar confirming cranial dysarthria fluorometric fsx62 gait ganglia heterozygote hexosaminidase juvenile leukocytes mri mrs mutation neuroimaging nmol p468p psychomotor retrospectively sandhoff slowly thalamus