Literature summary extracted from

Bradbury, A.M.; Morrison, N.E.; Hwang, M.; Cox, N.R.; Baker, H.J.; Martin, D.R.
Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency (2009), Mol. Genet. Metab., 97, 53-59.

Protein Variants

EC Number	Protein Variants	Comment	Organism
3.2.1.52	additional information	HEXB mutation, a 91 base pair deletion constituting the entirety of exon 12. 15 base pair deletion at the 3' end of intron 11	Felis catus

Localization

EC Number	Localization	Comment	Organism	GeneOntology No.	Textmining

Organism

EC Number	Organism	UniProt	Comment	Textmining
3.2.1.52	Felis catus	P49614	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
3.2.1.52	cerebral cortex	in affected cats with GM2 gangliosidosis, hexosaminidase beta-subunit mRNA levels are approximately 1.5times higher than normal, while beta-subunit protein levels are substantially reduced	Felis catus	-

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
3.2.1.52	4-methylumbelliferyl beta-D-glucosaminide + H2O	-	Felis catus	4-methylumbelliferone + D-glucosamine	-	?
3.2.1.52	additional information	GM2 gangliosidosis results from a deficiency of beta-N-acetylhexosaminidase	Felis catus	?	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
3.2.1.52	Hex B	-	Felis catus
3.2.1.52	hexosaminidase	-	Felis catus

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Release 2023.1 (January 2023)