HEXB

Description		hexosaminidase subunit beta
Image
GO Annotations	Cellular Component	Acrosomal Vesicle Extracellular Region Extracellular Space Lysosome Membrane Cytoplasmic Vesicle Azurophil Granule Lumen Azurophil Granule Lysosomal Lumen Cortical Granule Extracellular Exosome Beta-N-acetylhexosaminidase Complex
	Molecular Function	Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Beta-N-acetylhexosaminidase Activity Protein Binding Acetylglucosaminyltransferase Activity Hexosaminidase Activity Beta-N-acetylglucosaminidase Activity Hydrolase Activity Hydrolase Activity, Acting On Glycosyl Bonds Carbohydrate Binding Identical Protein Binding Protein-containing Complex Binding
	Biological Process	Skeletal System Development Carbohydrate Metabolic Process N-acetylglucosamine Metabolic Process N-glycan Processing Lipid Metabolic Process Glycosphingolipid Metabolic Process Ganglioside Catabolic Process Intracellular Calcium Ion Homeostasis Lysosome Organization Single Fertilization Penetration Of Zona Pellucida Sensory Perception Of Sound Locomotory Behavior Male Courtship Behavior Regulation Of Cell Shape Phospholipid Biosynthetic Process Oligosaccharide Catabolic Process Regulation Of Metabolic Process Lipid Storage Sexual Reproduction Glycosaminoglycan Metabolic Process Chondroitin Sulfate Proteoglycan Catabolic Process Dermatan Sulfate Proteoglycan Catabolic Process Hyaluronan Catabolic Process Myelination Astrocyte Cell Migration Positive Regulation Of Transcription By RNA Polymerase II Oogenesis Neuromuscular Process Controlling Balance Neuromuscular Process Neuron Cellular Homeostasis Carbohydrate Derivative Metabolic Process
Pathways		Keratan sulfate degradation CS/DS degradation Hyaluronan degradation Defective HEXB causes GM2G2 (Hyaluronan metabolism) Neutrophil degranulation Glycosphingolipid catabolism
Drugs		Pyrimethamine 2-Acetamido-2-Deoxy-D-Glucono-1,5-Lactone N-Acetyl-glucosamine thiazoline (2R,3R,4S,5R)-2-acetamido-3,4-dihydroxy-5-hydroxymethyl-piperidine
Diseases		GM2 gangliosidoses, including: Tay-Sachs disease (type I); Sandhoff disease (type II); Tay-Sachs disease AB variant
GWAS		Gut microbiota relative abundance (unassigned genus belonging to family Clostridiales) ( 33208821) Metabolite levels ( 23823483) Night sleep phenotypes ( 27126917)
Interacting Genes		6 interacting genes: AIRE CSNK2B EIF2D FAM210B HOXA1 TMEM14B
Entrez ID		3074
HPRD ID		06043
Ensembl ID		ENSG00000049860
Uniprot IDs		A0A024RAJ6 P07686 Q5URX0
PDB IDs		1NOU 1NOW 1NP0 1O7A 2GJX 2GK1 3LMY 5BRO
Enriched GO Terms of Interacting Partners?		Regulation Of Thymocyte Migration Central Tolerance Induction To Self Antigen Central Tolerance Induction Tolerance Induction Dependent Upon Immune Response Thymus Epithelium Morphogenesis Peripheral T Cell Tolerance Induction Protein Kinase CK2 Complex Symbiont-mediated Disruption Of Host Cell PML Body Viral Process Semicircular Canal Formation Abducens Nerve Formation Optokinetic Behavior Identical Protein Binding Tolerance Induction To Self Antigen Release From Viral Latency T Cell Tolerance Induction Positive Regulation Of Activin Receptor Signaling Pathway Negative Regulation Of Viral Life Cycle Adiponectin-activated Signaling Pathway Formation Of Translation Preinitiation Complex Embryonic Neurocranium Morphogenesis Outer Ear Morphogenesis Negative Thymic T Cell Selection Negative T Cell Selection Female Germ Cell Nucleus Tube Morphogenesis Endothelial Tube Morphogenesis IRES-dependent Viral Translational Initiation
Tagcloud ?