AlphaFold predicted structure
HEXA · P06865
Mean pLDDT
93.4/ 100
Very high
529 residues
Confidence breakdown
- Very high(≥ 90)89%
- Confident(70–90)5%
- Low(50–70)3%
- Very low(< 50)4%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HEXA
Chr 15q23hexosaminidase subunit alpha
- MANE:
- ENST00000268097.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Tay-Sachs disease
0.86hereditary disease
0.54Tay-Sachs disease, B1 variant
0.47Tay-Sachs disease AB variant
0.46GM2-gangliosidosis, AB variant
0.46Tay-Sachs disease, b variant, juvenile form
0.45GM2 gangliosidosis
0.38GM1 gangliosidosis
0.37Tay-Sachs disease, B variant, adult form
0.37Tay-Sachs disease, b variant, infantile form
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Beta-hexosaminidase subunit alpha
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 (PubMed:11707436, PubMed:16698036, PubMed:8123671, PubMed:8672428, PubMed:9694901). 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 (PubMed:11707436). The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide (PubMed:11707436). Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A (PubMed:8123671, PubMed:8672428, PubMed:9694901)