Literature summary for 3.2.1.52 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.

Search for more literature for 3.2.1.52

Protein Variants

Protein Variants	Comment	Organism
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

Localization	Comment	Organism	GeneOntology No.	Textmining

Organism

Organism	UniProt	Comment	Textmining
Felis catus	P49614	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
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)

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

Synonyms

Synonyms	Comment	Organism
Hex B	-	Felis catus
hexosaminidase	-	Felis catus

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)