HEXA

Gene Name		hexosaminidase A (alpha polypeptide)
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Gene Ontology Annotations	Cellular Component	Membrane Lysosomal Lumen Extracellular Vesicular Exosome
	Molecular Function	Beta-N-acetylhexosaminidase Activity Protein Heterodimerization Activity
	Biological Process	Carbohydrate Metabolic Process Sphingolipid Metabolic Process Glycosphingolipid Metabolic Process Pathogenesis 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 Small Molecule Metabolic Process
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
Diseases
GWAS
Protein-protein Interactions		2 interactors: GM2A USP22
Entrez ID		3073
HPRD ID		06040
Ensembl ID		ENSG00000213614
Uniprot IDs		H3BP20 P06865
PDB IDs		1QBC 2GJX 2GK1
Enriched GO Terms of Interacting Partners?		Ganglioside Catabolic Process Oligosaccharide Catabolic Process Ganglioside Metabolic Process Glycosphingolipid Catabolic Process Glycolipid Catabolic Process Histone Deubiquitination Ceramide Catabolic Process Sphingolipid Catabolic Process Membrane Lipid Catabolic Process Histone Ubiquitination Lipid Storage Oligosaccharide Metabolic Process Histone H4 Acetylation
Tagcloud ?		alanine associate carboxy catalysis derivatized eluted glu70 heterodimeric histidine hxxehx76h inserted inserting lys215 mpp mutagenesis nickel peptidase plasmon polypeptide positions presequences proper residue resin ser114 ser314 stochiometry surrounding tagged