Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

HEXB - hexosaminidase B (beta polypeptide)

Felis catus

Muldoon, L.L. et al., Kanae, Y. et al.

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Disease relevance of HEXB

The Korat cat provides an animal model for type II GM2-gangliosidosis (Sandhoff disease) that may be suitable for tests of gene replacement therapy with the HEXB gene encoding the beta subunit of the beta-hexosaminidases [1].
In the present study, the open reading frame (ORF) of the HEXB gene in a family of Japanese domestic cats with G(M2) gangliosidosis variant 0 (Sandhoff disease) was determined [2].

High impact information on HEXB

We characterized the feline HEXB complementary DNA (cDNA) and determined the molecular defect in this feline model. cDNA libraries were produced from one normal and one affected animal, and cDNA clones homologous to human HEXB were sequenced [1].

References

Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). Muldoon, L.L., Neuwelt, E.A., Pagel, M.A., Weiss, D.L. Am. J. Pathol. (1994) [Pubmed]
Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. Kanae, Y., Endoh, D., Yamato, O., Hayashi, D., Matsunaga, S., Ogawa, H., Maede, Y., Hayashi, M. Res. Vet. Sci. (2007) [Pubmed]

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