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Sequence in raw or FASTA format:

Database:

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HEXA hexosaminidase A (alpha polypeptide) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000520 Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

Gene Symbol HEXA
Entrez Gene ID 3073
Full Name hexosaminidase A (alpha polypeptide)
Synonyms TSD
General protein information
Preferred Names
beta-hexosaminidase subunit alpha
Names
beta-hexosaminidase subunit alpha
hexosaminidase subunit A
beta-N-acetylhexosaminidase subunit alpha
N-acetyl-beta-glucosaminidase subunit alpha
NP_000511.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

15

15q24.1

Summary This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009].
Disorder

MIM: 606869

Tay-Sachs disease, 272800 (3); GM2-gangliosidosis, several forms,

mRNA Protein Product Sequence Price Select
NM_000520, 189181665 NP_000511, 189181666 beta-hexosaminidase subunit alpha preproprotein ORF Sequence $550.00
KEGG
hsa00604Glycosphingolipid biosynthesis - ganglio series
hsa00520Amino sugar and nucleotide sugar metabolism
hsa00531Glycosaminoglycan degradation
hsa00511Other glycan degradation
hsa00603Glycosphingolipid biosynthesis - globo series
hsa04142Lysosome
hsa_M00079Keratan sulfate degradation
Reactome
REACT_19323Sphingolipid metabolism
REACT_474Metabolism of carbohydrates
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_147734MPS II - Hunter syndrome
REACT_147749MPS IIID - Sanfilippo syndrome D
REACT_147857MPS I - Hurler syndrome
REACT_147798MPS IV - Morquio syndrome B
REACT_147825MPS IV - Morquio syndrome A
REACT_147719MPS VI - Maroteaux-Lamy syndrome
REACT_147753MPS IIIA - Sanfilippo syndrome A
REACT_147739MPS IX - Natowicz syndrome
REACT_147860MPS IIIC - Sanfilippo syndrome C
REACT_147853Mucopolysaccharidoses
REACT_147788MPS IIIB - Sanfilippo syndrome B
REACT_147759MPS VII - Sly syndrome
REACT_116105Glycosphingolipid metabolism
REACT_116125Disease
REACT_121315Glycosaminoglycan metabolism
REACT_121313Keratan sulfate degradation
REACT_121083Hyaluronan metabolism
REACT_120996Hyaluronan uptake and degradation
REACT_120888CS/DS degradation
REACT_121288Keratan sulfate/keratin metabolism
REACT_121206Chondroitin sulfate/dermatan sulfate metabolism
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)HEXANP_000511.2
Pan troglodytes (chimpanzee)HEXAXP_001175124.1
Macaca mulatta (Rhesus monkey)HEXAXP_001092589.1
Canis lupus familiaris (dog)HEXAXP_544758.2
Bos taurus (cattle)HEXANP_001068632.1
Mus musculus (house mouse)HexaNP_034551.2
Rattus norvegicus (Norway rat)HexaNP_001004443.1
Gallus gallus (chicken)HEXANP_001025561.1
Danio rerio (zebrafish)zgc:112084NP_001017763.1
Arabidopsis thaliana (thale cress)HEXO3NP_176737.2
Process
IDNameEvidence
GO:0001501skeletal system developmentIEA
GO:0005975carbohydrate metabolic processTAS
GO:0006665sphingolipid metabolic processTAS
GO:0006687glycosphingolipid metabolic processTAS
GO:0006689ganglioside catabolic processIEA
GO:0007040lysosome organizationIEA
GO:0007605sensory perception of soundIEA
GO:0007628adult walking behaviorIEA
GO:0008219cell deathIEA
GO:0019915lipid storageIEA
GO:0019953sexual reproductionIEA
GO:0030203glycosaminoglycan metabolic processTAS
GO:0030204chondroitin sulfate metabolic processTAS
GO:0030207chondroitin sulfate catabolic processTAS
GO:0030212hyaluronan metabolic processTAS
GO:0030214hyaluronan catabolic processTAS
GO:0042339keratan sulfate metabolic processTAS
GO:0042340keratan sulfate catabolic processTAS
GO:0042552myelinationIEA
GO:0044281small molecule metabolic processTAS
GO:0048667cell morphogenesis involved in neuron differentiationIEA
GO:0050884neuromuscular process controlling postureIEA
GO:0050885neuromuscular process controlling balanceIEA
Component
IDNameEvidence
GO:0016020membraneIDA
GO:0043202lysosomal lumenTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004563beta-N-acetylhexosaminidase activityIEA
GO:0046982protein heterodimerization activityIDA
GeneCards HEXA
PDB 2GK1, 1QBC, 2GJX
UniProt P06865
Vega OTTHUMG00000133445
MIM 606869
Ensembl ENSG00000213614
HGNC 4878
HPRD 06040

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the HEXA gene?

The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. One alpha subunit joins with one beta subunit (produced from the HEXB gene) to form a functioning enzyme.

Beta-hexosaminidase A plays a critical role in the brain and spinal cord (central nervous system). This enzyme is found in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A forms part of a complex that breaks down a fatty substance called GM2 ganglioside.

Interactant

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