RecName: Full=Beta-hexosaminidase subunit alpha; AltName: Full=Beta-N- - Protein

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Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. [Orphanet J Rare Dis. 2023]
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Ibrahim DMA, Ali OSM, Nasr H, Fateen E, AbdelAleem A. Orphanet J Rare Dis. 2023 Mar 13; 18(1):52. Epub 2023 Mar 13.
Natural history of Tay-Sachs disease in sheep. [Mol Genet Metab. 2021]
Natural history of Tay-Sachs disease in sheep.
Story B, Taghian T, Gallagher J, Koehler J, Taylor A, Randle A, Nielsen K, Gross A, Maguire A, Carl S, et al. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):164-174. Epub 2021 Aug 21.
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease. [Proteins. 2021]
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.
Almanasra A, Havranek B, Islam SM. Proteins. 2021 Nov; 89(11):1587-1601. Epub 2021 Jul 29.

RefSeq genomic sequence
See the genomic reference sequence for the HEXA gene (NG_009017.3).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the HEXA gene.

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P06865 [Domain Mapping of Disease Mut...]
P06865
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

RecName: Full=Beta-hexosaminidase subunit alpha; AltName: Full=Beta-N-acetylhexo...
RecName: Full=Beta-hexosaminidase subunit alpha; AltName: Full=Beta-N-acetylhexosaminidase subunit alpha; Short=Hexosaminidase subunit A; AltName: Full=N-acetyl-beta-glucosaminidase subunit alpha; Flags: Precursor
gi|311033393|sp|P06865.2|HEXA_HUMAN

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