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

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Sandhoff Disease. [GeneReviews(®). 1993]
Sandhoff Disease.
Xiao C, Tifft C, Toro C. GeneReviews(®). 1993-2024. 2022 Apr 14
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. [BMC Pediatr. 2021]
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Tim-Aroon T, Wichajarn K, Katanyuwong K, Tanpaiboon P, Vatanavicharn N, Sakpichaisakul K, Kongkrapan A, Eu-Ahsunthornwattana J, Thongpradit S, Moolsuwan K, et al. BMC Pediatr. 2021 Jan 7; 21(1):22. Epub 2021 Jan 7.
Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature. [J Mol Neurosci. 2020]
Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.
Liu M, Huang D, Wang H, Zhao L, Wang Q, Chen X. J Mol Neurosci. 2020 Apr; 70(4):481-487. Epub 2020 Jan 9.

RefSeq genomic sequence
See the genomic reference sequence for the HEXB gene (NG_009770.3).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the HEXB gene.

PubMed
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P07686 [Domain Mapping of Disease Mut...]
P07686
Domain Mapping of Disease Mutations
Reactome [Reactome]
Reactome

RecName: Full=Beta-hexosaminidase subunit beta; AltName: Full=Beta-N-acetylhexos...
RecName: Full=Beta-hexosaminidase subunit beta; AltName: Full=Beta-N-acetylhexosaminidase subunit beta; Short=Hexosaminidase subunit B; AltName: Full=Cervical cancer proto-oncogene 7 protein; Short=HCC-7; AltName: Full=N-acetyl-beta-glucosaminidase subunit beta; Contains: RecName: Full=Beta-hexosaminidase subunit beta chain B; Contains: RecName: Full=Beta-hexosaminidase subunit beta chain A; Flags: Precursor
gi|2203400814|sp|P07686.4|HEXB_HUMA

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