HEXA

Description		hexosaminidase subunit alpha
Image
GO Annotations	Cellular Component	Lysosome Cytosol Membrane Azurophil Granule Lysosomal Lumen Extracellular Exosome Beta-N-acetylhexosaminidase Complex
	Molecular Function	Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Beta-N-acetylhexosaminidase Activity Protein Binding Acetylglucosaminyltransferase Activity Hydrolase Activity Hydrolase Activity, Acting On Glycosyl Bonds Protein Heterodimerization Activity
	Biological Process	Skeletal System Development Carbohydrate Metabolic Process Glycosaminoglycan Biosynthetic Process N-glycan Processing Lipid Metabolic Process Ganglioside Catabolic Process Lysosome Organization Sensory Perception Of Sound Locomotory Behavior Adult Walking Behavior Lipid Storage Sexual Reproduction Glycosaminoglycan Metabolic Process Dermatan Sulfate Proteoglycan Catabolic Process Hyaluronan Catabolic Process Myelination Cell Morphogenesis Involved In Neuron Differentiation Neuromuscular Process Controlling Posture Neuromuscular Process Controlling Balance Carbohydrate Derivative Metabolic Process
Pathways		Keratan sulfate degradation CS/DS degradation Hyaluronan degradation Defective HEXA causes GM2G1 (Hyaluronan metabolism) Glycosphingolipid catabolism
Drugs
Diseases		GM2 gangliosidoses, including: Tay-Sachs disease (type I); Sandhoff disease (type II); Tay-Sachs disease AB variant
GWAS
Interacting Genes		3 interacting genes: CREBBP GM2A USP22
Entrez ID		3073
HPRD ID		06040
Ensembl ID		ENSG00000213614
Uniprot IDs		A0A0S2Z3W3 B4DVA7 H3BP20 P06865
PDB IDs		2GJX 2GK1
Enriched GO Terms of Interacting Partners?		Protein Deubiquitination Protein Modification By Small Protein Removal Sphingolipid Activator Protein Activity Beta-N-acetylgalactosaminidase Activity Histone H3K18 Acetyltransferase Activity N-terminal Peptidyl-lysine Acetylation Histone H3K27 Acetyltransferase Activity Regulation Of DNA Repair Peptide Lactyltransferase (CoA-dependent) Activity Beta-N-acetylhexosaminidase Activity Histone H2B Deubiquitinase Activity MRF Binding Transcription Coactivator Activity Histone H2A Deubiquitinase Activity Ganglioside Catabolic Process Negative Regulation Of Transcription By RNA Polymerase I N-terminal Protein Amino Acid Acetylation Phospholipase Activator Activity Histone H4 Acetyltransferase Activity Peptidyl-lysine Acetylation Regulation Of DNA Metabolic Process Acetyltransferase Activity Regulation Of Cellular Response To Stress Regulation Of Cellular Response To Heat Cellular Response To Lectin Stimulatory C-type Lectin Receptor Signaling Pathway Glycosphingolipid Catabolic Process Glycolipid Catabolic Process Ceramide Catabolic Process Oligosaccharide Catabolic Process Transcription Factor TFTC Complex Histone Acetyltransferase Complex Chromatin Remodeling Protein-lysine-acetyltransferase Activity Ganglioside Metabolic Process Lipid Transporter Activity SAGA Complex Protein K48-linked Deubiquitination Protein Acetylation Positive Regulation Of Transforming Growth Factor Beta Receptor Signaling Pathway Histone Acetyltransferase Activity Lipid Storage Post-translational Protein Modification Chromatin Organization Sphingolipid Catabolic Process Regulation Of Transcription By RNA Polymerase I Tau Protein Binding Membrane Lipid Catabolic Process Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Neuromuscular Process Controlling Balance
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