HEXA - hexosaminidase subunit alpha Gene

Also Known as TSD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3073

About HEXA

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:72,340,924-72,376,014 (from NCBI)

This gene has 49 transcripts (splice variants), 188 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in placenta (RPKM 36.4), thyroid (RPKM 34.8) and 25 other tissues.

Summary

This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the Alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

HEXA Products (2)

mRNA	Protein	Name
NM_000520.6	NP_000511.2	beta-hexosaminidase subunit alpha isoform 2 preproprotein
NM_001318825.2	NP_001305754.1	beta-hexosaminidase subunit alpha isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	25645918	GOA
enables beta-N-acetylhexosaminidase activity	IDA IDA: Inferred from direct assay	8123671	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16698036	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	6230359	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in ganglioside catabolic process	IDA IDA: Inferred from direct assay	8123671	GOA
involved in glycosaminoglycan biosynthetic process	IDA IDA: Inferred from direct assay	25645918	GOA
involved in glycosaminoglycan metabolic process	IDA IDA: Inferred from direct assay	11707436	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in azurophil granule	IDA IDA: Inferred from direct assay	25645918	GOA
part of beta-N-acetylhexosaminidase complex	IDA IDA: Inferred from direct assay	11707436	GOA
part of beta-N-acetylhexosaminidase complex	IPI IPI: Inferred from physical interaction	16698036	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEXA Protein Structure

Glycohydro_20b2

Glyco_hydro_20

0
100
200
300
400
500
529 a.a.

Protein Preferred Names	Protein Names
beta-hexosaminidase subunit alpha	N-acetyl-beta-glucosaminidase subunit alpha

HEXA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	HEXA	P06865	HEXB	Homo sapiens	P07686	X-Ray Diffraction	16698036
Intra	HEXA	P06865	HEXB	Homo sapiens	P07686	Anti Tag CoIP	33961781
Intra	HEXA	P06865	HEXB	Homo sapiens	P07686	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HEXA Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P73099	HEXA/Hexosaminidase A Protein, Human (sf9, His)	AAD13932.1 (L23-T529)	≥ 95%, as determined by reducing SDS-PAGE.

HEXA Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83979	HEXA Antibody (YA3676)	WB, FC, ELISA	Human
HY-P83979A	HEXA Antibody (YA3676)(PBS only)	WB, FC, ELISA	Human

Related Diseases

Diseases	Alias
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
Tay-Sachs Disease, B1 Variant	Gm2 Gangliosidosis, B1 Variant Hexosaminidase A Deficiency, B1 Variant Gm2-Gangliosidosis, Variant B1
Tay-Sachs Disease, B Variant, Juvenile Form	Gm2 Gangliosidosis, B Variant, Juvenile Form Hexosaminidase A Deficiency, Juvenile Form
Tay-Sachs Disease, B Variant, Infantile Form	Gm2 Gangliosidosis, B Variant, Infantile Form Hexosaminidase A Deficiency, Infantile Form
Tay-Sachs Disease, B Variant, Adult Form	Gm2 Gangliosidosis, B Variant, Adult Form Hexosaminidase A Deficiency, Adult Form
Gm2-Gangliosidosis, Ab Variant	Hexosaminidase Activator Deficiency Tay-Sachs Disease, Ab Variant Gm2 Gangliosidosis, Ab Variant Gm2 Activator Deficiency Tay-Sachs Disease, Variant Ab Tay-Sachs Disease Ab Variant Ab Variant Gm2-Gangliosidosis Tay-Sachs Variant Ab Ab Variant Activator Deficiency/Gm2 Gangliosidosis Activator-Deficient Tay-Sachs Disease Gm2 Activator Deficiency Disease Gm2 Gangliosidosis, Type Ab Gm2-Gangliosidosis Ab GM2GAB Gm2-Gangliosidosis Ab Variant Gangliosidosis Gm2 Ab Variant Gm2-Gangliosidosis, Variant Ab
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Gangliosidosis	Gangliosidoses
Sandhoff Disease	Total Hexosaminidase Deficiency Hexosaminidases A And B Deficiency Sandhoff Disease, Infantile, Juvenile, And Adult Forms Beta-Hexosaminidase-Beta-Subunit Deficiency Gm2 Gangliosidosis, Type 2 Hexosaminidase A And B Deficiency Disease Sandhoff-Jatzkewitz-Pilz Disease Gm2 Gangliosidosis, Type Ii Sandhoff Disease, Infantile Form Sandhoff Disease, Adult Form Sandhoff Disease, Juvenile Form Gm2-Gangliosidosis, Type Ii Sandhoff Jatzkewitz Disease Type Ii Gm2 Gangliosidosis Gm2 Gangliosidosis, 0 Variant Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Infantile Form Infantile Gm2 Gangliosidosis 0 Variant Adult Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Adult Form Hexosaminidases A And B Deficiency, Juvenile Form Juvenile Gm2 Gangliosidosis 0 Variant Gm2-Gangliosidosis 2 GM2G2 Hexosaminidase A And B Deficiency Sd
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Leukodystrophy	Leukodystrophies
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Gm1 Gangliosidosis	Beta-Galactosidase Deficiency Gangliosidosis Gm1 Deficiency Of Beta-Galactosidase Beta Galactosidase 1 Deficiency Beta-Galactosidosis Glb 1 Deficiency Beta-Galactosidase-1 Deficiency Beta-Galactosidase-1 Deficiency Glb1 Deficiency Landing Disease Gangliosidosis, Gm1
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2
Mucolipidoses
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
Chronic Inflammatory Demyelinating Polyneuritis	Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Animal Phobia	Zoophobia Fear Of Animals
Sensory Peripheral Neuropathy	Sensory Neuropathy Peripheral Sensory Neuropathy Hereditary Sensory And Autonomic Neuropathies
Sphingolipidosis	Sphingolipidoses
Spinocerebellar Ataxia 21	Spinocerebellar Ataxia Type 21 SCA21 Ataxia, Spinocerebellar, Type 21
Toxic Pneumonitis	Acute Chemical Fume Pulmonary Edema Acute Chemical Pulmonary Edema Acute Pulmonary Edema Due To Fumes And/Or Vapors
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Spinocerebellar Ataxia, Autosomal Recessive 4	SCAR4 Scasi Spinocerebellar Ataxia With Saccadic Intrusions Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Spinocerebellar Ataxia 24 Autosomal Recessive Spinocerebellar Ataxia 4 Sca24 Spinocerebellar Ataxia 24, Formerly Sca24, Formerly Spinocerebellar Ataxia Autosomal Recessive 4 Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Niemann-Pick Disease, Type A	Niemann-Pick Disease Type A Sphingomyelin Lipidosis Sphingomyelinase Deficiency Niemann-Pick Disease, Intermediate, Protracted Neurovisceral Acid Sphingomyelinase Deficiency, Neurovisceral Type Asmd, Neurovisceral Type Infantile Neurovisceral Acid Sphingomyelinase Deficiency Infantile Neurovisceral Asmd Npd-A Niemann-Pick Disease A NPDA Classical Niemann-Pick Disease Niemann-Pick Disease Acute Neuronopathic Form Niemann-Pick Disease Acute Neurovisceral Form Niemann-Pick Disease Classical Infantile Form Niemann-Pick Disease Intermediate Protracted Neurovisceral Niemann-Pick Disease Neuronopathic Type Niemann-Pick Disease Type I Npa Niemann-Pick Diseases
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (29)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-P0294	Hexa-His		99.84%	Unkown
HY-P1028	Hexa-D-arginine		99.97%	Unkown
HY-104050	M-31850		99.79%	Unkown
HY-N7698B	Hexa-N-acetylchitohexaose	Substrate	99.81%	Unkown
HY-W142015	Hexa-L-Tyrosine		99.88%	Unkown
HY-P1028A	Hexa-D-arginine TFA		99.01%	Unkown
HY-W017690	(2E,4E)-Hexa-2,4-dien-1-ol		98.81%	Unkown
HY-W068700	Methyl sorbate		98.85%	Unkown
HY-P0294A	Hexa-His TFA		99.77%	Unkown
HY-N4308	Hexamethylquercetagetin	Inhibitor	98.0%	Unkown
HY-W753474	1,2-Dipalmitelaidoyl-sn-glycero-3-phosphocholine		99%	Unkown
HY-132190	Hexanolamino PAF C-16	Antagonist	99.9%	Unkown
HY-141510A	myo-Inositol trispyrophosphate hexa-triethylamine		98.0%	Unkown
HY-108241A	Galacto-PUGNAc	Inhibitor	/	Unkown
HY-187494A	DOPE-PEG2000-Asp6		/	Unkown
HY-E71548	2-Hydroxy-6-oxo-6-(2-aminophenyl)hexa-2,4-dienoate hydrolase		/	Unkown
HY-P4247	Hexaarginine		/	Unkown
HY-RS06142	HEXA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W112661	2,3,6,7,10,11-Hexapyridine-3-yltriphenylene		/	Unkown
HY-W112926	1,2,3,4,5,6-Hexa(1H-imidazol-1-yl)benzene		/	Unkown
HY-W243917	4-[[2,3,4,4,6-Pentakis(4-carboxyphenoxy)-1,3,5-triaza-2,4λ5,6-triphosphacyclohex-4-en-1-yl]oxy]benzoicacid		/	Unkown
HY-W423439	1,2,3,4,5,6-Hexa(pyridin-4-yl)benzene		/	Unkown
HY-W456296	N1,N1,N3,N3,N5,N5-Hexa(pyridin-4-yl)benzene-1,3,5-triamine		/	Unkown
HY-W578017	N2,N2,N4,N4,N6,N6-Hexa-2-pyridinyl-1,3,5-triazine-2,4,6-triamine		/	Unkown
HY-W802269	3,6,2',3',4',6'-Hexa-O-acetyl-D-lactal		/	Unkown
HY-175148	Hexa lipid 114		/	Unkown
HY-N13438	6beta-(Hexa-2,4-dienoyloxy)-9alpha,12-dihydroxydrimenol		/	Unkown
HY-RS17493	Hexa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23950	Hexa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HEXA	MGD	MGI:96073
Rattus norvegicus	HEXA	RGD	RGD:2792
Felis catus	HEXA	VGNC	VGNC:104400