HEXA report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0007040Biological processlysosome organization
GO_0007605Biological processsensory perception of sound
GO_0007628Biological processadult walking behavior
GO_0042552Biological processmyelination
GO_0005975Biological processcarbohydrate metabolic process
GO_0050885Biological processneuromuscular process controlling balance
GO_0030209Biological processdermatan sulfate catabolic process
GO_0030214Biological processhyaluronan catabolic process
GO_0050884Biological processneuromuscular process controlling posture
GO_0051651Biological processmaintenance of location in cell
GO_0048667Biological processcell morphogenesis involved in neuron differentiation
GO_0030203Biological processglycosaminoglycan metabolic process
GO_0019915Biological processlipid storage
GO_0019953Biological processsexual reproduction
GO_0006024Biological processglycosaminoglycan biosynthetic process
GO_0001501Biological processskeletal system development
GO_0006689Biological processganglioside catabolic process
GO_0016020Cellular componentmembrane
GO_1905379Cellular componentbeta-N-acetylhexosaminidase complex
GO_0005764Cellular componentlysosome
GO_0070062Cellular componentextracellular exosome
GO_0042582Cellular componentazurophil granule
GO_0005829Cellular componentcytosol
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0043202Cellular componentlysosomal lumen
GO_0004563Molecular functionbeta-N-acetylhexosaminidase activity
GO_0102148Molecular functionN-acetyl-beta-D-galactosaminidase activity
GO_0008375Molecular functionacetylglucosaminyltransferase activity
GO_0046982Molecular functionprotein heterodimerization activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameHEXA
Protein nameBeta-hexosaminidase subunit alpha (EC 3.2.1.52) (Beta-N-acetylhexosaminidase subunit alpha) (Hexosaminidase subunit A) (N-acetyl-beta-glucosaminidase subunit alpha)
Mutant beta-hexosaminidase subunit alpha preproprotein
HEXA protein
Hexosaminidase subunit alpha
Beta-hexosaminidase (EC 3.2.1.52)
beta-N-acetylhexosaminidase (EC 3.2.1.52)
Beta-hexosaminidase subunit alpha (EC 3.2.1.52) (Beta-N-acetylhexosaminidase subunit alpha) (N-acetyl-beta-glucosaminidase subunit alpha)
Hexosaminidase A isoform 2
Hexosaminidase A
Synonyms
DescriptionFUNCTION: Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides . The isozyme S is as active as the isozyme A on the anionic bis-sulfated glycans, the chondroitin-6-sulfate trisaccharide (C6S-3), and the dermatan sulfate pentasaccharide, and the sulfated glycosphingolipid SM2 . The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide . Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A . .

AccessionsH3BT62
ENST00000566672.5
Q9BVJ8
ENST00000566304.5
A0A804HIQ5
ENST00000569410.5
G3XL78
Q16017
ENST00000683133.1
H3BVH8
A0A804HJ97
ENST00000684125.1
V9H096
H3BP20
ENST00000683003.1
ENST00000683853.1
ENST00000568260.2
G3XL81
ENST00000684602.1
V9H0E1
ENST00000684305.1
P06865
A0A0S2Z3W3
G8FGB2
ENST00000567027.6
A0A087WTY2
A0A0S2Z3L7
A0A804HIC8
ENST00000683884.1
G3XL82
ENST00000683860.1
A0A804HJK0
G3XL48
ENST00000682721.1
A0A0S2Z3X0
ENST00000684520.1
V9H0A6
A0A804HK32
ENST00000682061.1
ENST00000684415.1
G3XL83
H3BU85
H3BQ04
ENST00000563762.5
ENST00000684231.1
ENST00000682843.1
ENST00000684667.1
H3BTD4
H3BS10
A0A0S2Z3M0
ENST00000567411.5
G3XL80
ENST00000684041.1
ENST00000684263.1
A0A804HKX5
ENST00000683579.1
ENST00000682657.1
ENST00000567159.5
ENST00000567213.2
H3BRP6
ENST00000683243.1
A0A804HIC7
A0A804HLJ5
ENST00000682177.1
ENST00000682461.1
G3XL49
G3XL79
ENST00000683463.1
ENST00000268097.10 [P06865-1]
ENST00000683681.1
A0A0S2Z3U8
A0A804HIU3
ENST00000683735.1