HEXB - hexosaminidase subunit beta Gene

Also Known as ENC-1AS; HEL-248; HEL-S-111

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3074

About HEXB

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:74,640,023-74,721,288 (from NCBI)

This gene has 13 transcripts (splice variants), 217 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in placenta (RPKM 128.3), colon (RPKM 50.8) and 25 other tissues.

Summary

Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and Other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

HEXB Products (2)

mRNA	Protein	Name
NM_000521.4	NP_000512.2	beta-hexosaminidase subunit beta isoform 1 preproprotein
NM_001292004.2	NP_001278933.1	beta-hexosaminidase subunit beta isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	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 identical protein binding	IDA IDA: Inferred from direct assay	6230359	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16698036	GOA

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

Cellular Component GO Annotation	Evidence	References	Source
located in azurophil granule	IDA IDA: Inferred from direct assay	25645918	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

HEXB Protein Structure

Glycohydro_20b2

Glyco_hydro_20

0
100
200
300
400
500
556 a.a.

Protein Preferred Names	Protein Names
beta-hexosaminidase subunit beta	HCC-7

HEXB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HEXB	P07686	UBQLNL	Homo sapiens	Q8IYU4	Y2H Pooling	32814053
Intra	HEXB	P07686	UBQLNL	Homo sapiens	Q8IYU4	Validated Y2H	32814053
Intra	HEXB	P07686	UBQLNL	Homo sapiens	Q8IYU4	Y2H Array	32814053
Intra	HEXB	P07686	FAM210B	Homo sapiens	Q96KR6	Y2H Prey Pooling	32296183
Intra	HEXB	P07686	FAM210B	Homo sapiens	Q96KR6	Validated Y2H	32296183
Intra	HEXB	P07686	FAM210B	Homo sapiens	Q96KR6	Y2H Array	32296183
Intra	HEXB	P07686	UBQLN3	Homo sapiens	Q9H347	Validated Y2H	32814053
Intra	HEXB	P07686	UBQLN3	Homo sapiens	Q9H347	Y2H Array	32814053
Intra	HEXB	P07686	UBQLN3	Homo sapiens	Q9H347	Y2H Pooling	32814053
Intra	HEXB	P07686	CAPN15	Homo sapiens	O75808	Validated Y2H	32814053
Intra	HEXB	P07686	CAPN15	Homo sapiens	O75808	Y2H Array	32814053
Intra	HEXB	P07686	CAPN15	Homo sapiens	O75808	Y2H Pooling	32814053
Intra	HEXB	P07686	PIAS1	Homo sapiens	O75925	Y2H Array	32814053
Intra	HEXB	P07686	PIAS1	Homo sapiens	O75925	Validated Y2H	32814053
Intra	HEXB	P07686	PIAS1	Homo sapiens	O75925	Y2H Pooling	32814053
Intra	HEXB	P07686	KLHL36	Homo sapiens	Q8N4N3	Validated Y2H	32814053
Intra	HEXB	P07686	KLHL36	Homo sapiens	Q8N4N3	Y2H Array	32814053
Intra	HEXB	P07686	KLHL36	Homo sapiens	Q8N4N3	Y2H Pooling	32814053
Intra	HEXB	P07686	TLE1	Homo sapiens	Q04724	Validated Y2H	32814053
Intra	HEXB	P07686	TLE1	Homo sapiens	Q04724	Y2H Pooling	32814053
Intra	HEXB	P07686	TLE1	Homo sapiens	Q04724	Y2H Array	32814053
Intra	HEXB	P07686	ZBTB16	Homo sapiens	Q05516	Y2H Pooling	32814053
Intra	HEXB	P07686	ZBTB16	Homo sapiens	Q05516	Validated Y2H	32814053
Intra	HEXB	P07686	ZBTB16	Homo sapiens	Q05516	Y2H Array	32814053
Intra	HEXB	P07686	HEXA	Homo sapiens	P06865	X-Ray Diffraction	16698036
Intra	HEXB	P07686	LNX1	Homo sapiens	Q8TBB1	Y2H Array	32814053
Intra	HEXB	P07686	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32814053
Intra	HEXB	P07686	LNX1	Homo sapiens	Q8TBB1	Y2H Pooling	32814053
Intra	HEXB	P07686	HOXA1	Homo sapiens	P49639	Y2H Prey Pooling	32296183
Intra	HEXB	P07686	HOXA1	Homo sapiens	P49639	Validated Y2H	32296183
Intra	HEXB	P07686	HOXA1	Homo sapiens	P49639	Y2H Array	32296183
Intra	HEXB	P07686	RNF183	Homo sapiens	Q96D59	Y2H Array	32814053
Intra	HEXB	P07686	RNF183	Homo sapiens	Q96D59	Y2H Pooling	32814053
Intra	HEXB	P07686	RNF183	Homo sapiens	Q96D59	Validated Y2H	32814053
Intra	HEXB	P07686	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	HEXB	P07686	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	HEXB	P07686	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	HEXB	P07686	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32814053
Intra	HEXB	P07686	UBQLN2	Homo sapiens	Q9UHD9	Y2H Pooling	32814053
Intra	HEXB	P07686	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HEXB Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74890	HEXB/Hexosaminidase B Protein, Human (HEK293, His)	P07686 (A43-M556)	≥ 95%, as determined by reducing SDS-PAGE.

HEXB Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86899	HEXB Antibody (YA6592)	WB, IHC-P, ICC/IF, FC, IF-Tissue	Human

Related Diseases

Diseases	Alias
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
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Gangliosidosis	Gangliosidoses
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
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Infectious Anterior Uveitis	Secondary Infected Iridocyclitis Infectious Secondary Iridocyclitis Secondary Iridocyclitis, Infectious
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
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
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
Gm1-Gangliosidosis, Type Iii	Gm1 Gangliosidosis Type 3 GM1G3 Gangliosidosis, Generalized Gm1, Type 3 Adult-Onset Gm1 Gangliosidosis Gangliosidosis Gm1 Type 3 Gangliosidosis Generalized Gm1 Chronic Type Gangliosidosis, Generalized Gm1, Adult Type Gangliosidosis, Generalized Gm1, Chronic Type Gangliosidosis, Generalized Gm1, Type Iii Adult Gm1 Gangliosidosis Beta-Galactosidase Deficiency Type 3 Gm1-Gangliosidosis 3 Gangliosidosis Generalized Gm1 Type 3 Gm1-Gangliosidosis Generalized Adult Type Gangliosidosis, Gm1 Type Iii
Gallbladder Papillomatosis
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Sphingolipidosis	Sphingolipidoses
Gm1-Gangliosidosis, Type Ii	Gm1 Gangliosidosis Type 2 GM1G2 Gangliosidosis, Generalized Gm1, Type 2 Juvenile Gm1 Gangliosidosis Gangliosidosis Generalized Gm1 Type 2 Gangliosidosis, Generalized Gm1, Juvenile Type Gangliosidosis, Generalized Gm1, Type Ii Gangliosidosis Generalized Gm1 Juvenile Type Late-Infantile Gm1 Gangliosidosis Gm1-Gangliosidosis 2 Gangliosidosis Generalized Gm1 Late Infantile Type Gm1-Gangliosidosis Generalized Juvenile Type Gangliosidosis, Gm1, Type Ii
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
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

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 (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-104050	M-31850		99.79%	Unkown
HY-108241A	Galacto-PUGNAc	Inhibitor	/	Unkown
HY-175076	Globotriaosylceramide (non-hydroxy) (porcine RBC)		/	Unkown
HY-RS06143	HEXB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N12056	Cyclo(L-leucyl-L-valyl)		99.35%	Unkown
HY-RS18135	Hexb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24610	Hexb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HEXB	VGNC	VGNC:102224
Mus musculus	HEXB	MGD	MGI:96074
Macaca mulatta	HEXB	VGNC	VGNC:73367
Canis familiaris	HEXB	VGNC	VGNC:41669
Rattus norvegicus	HEXB	RGD	RGD:1307607
Others	HEXB	NCBI