HEXA - hexosaminidase subunit alpha Gene

Homo sapiens

Also known as TSD

Gene ID: 3073 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Recombinant HEXA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P73099	HEXA/Hexosaminidase A Protein, Human (sf9, His)	AAD13932.1 (L23-T529)	≥95%

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

Bioactive Molecules (13)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1028	Hexa-D-arginine		99.85%	Unkown
HY-104050	M-31850		99.94%	Unkown
HY-N7698B	Hexa-N-acetylchitohexaose		97.5%	Unkown
HY-W017690	(2E,4E)-Hexa-2,4-dien-1-ol		97.83%	Unkown
HY-108246	GlcNAcstatin	Inhibitor	/	Unkown
HY-132190	Hexanolamino PAF C-16	Antagonist	/	Unkown
HY-141510A	myo-Inositol trispyrophosphate hexa-triethylamine		≥98.0%	Unkown
HY-N4308	Hexamethylquercetagetin		/	Unkown
HY-P1028A	Hexa-D-arginine TFA		/	Unkown
HY-RS06142	HEXA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W068700	Methyl sorbate		98.85%	Unkown
HY-W802269	3,6,2',3',4',6'-Hexa-O-acetyl-D-lactal		/	Unkown
HY-N13438	6beta-(Hexa-2,4-dienoyloxy)-9alpha,12-dihydroxydrimenol		/	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