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Article

The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.

Journal of molecular biology - 2 May 2003

Maier Timm, Strater Norbert, Schuette Christina G, Klingenstein Ralf, Sandhoff Konrad, Saenger Wolfram

Abstract excerpt

Human lysosomal beta-hexosaminidases are dimeric enzymes composed of alpha and beta-chains, encoded by the genes HEXA and HEXB. They occur in three isoforms, the homodimeric hexosaminidases B (betabeta) and S (alphaalpha), and the heterodimeric hexosaminidase A (alphabeta), where dimerization is required for catalytic activity. Allelic variations in the HEXA and HEXB genes cause the fatal inborn errors of...

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Source

Identifiers

PMID: 12706724
DOI: 10.1016/s0022-2836(03)00311-5

Genes

HEXA
HEXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.PMID 12706724Read ↗

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