GBA1, GBA2 ja GBA3, glukosyylikeramidaasien perhe

GBA1  (1q22)  Lysosomaalinen glykosyylikeramidaasi, Glukokerebrosidaasi

 https://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA1&keywords=GBA1

GBA2 (9p13.3) Non-lysosomaalinen glykosyylikeramidaasi

 https://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA2&keywords=GBA2

GBA3  (4p15.2), Sytosolinen glukosyylikeramidaasi beeta 3  pystyy käsittelemään dietäärisiä glykosyyliyhdisteitäkin.

https://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA3&keywords=GBA3

Entrez Gene Summary for GBA3 Gene

• The protein encoded by this gene is a cytosolic enzyme that can hydrolyze several types of glycosides. The enzyme has its highest activity at neutral pH and is predominantly expressed in human liver, kidney, intestine, and spleen. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2022]

GeneCards Summary for GBA3 Gene

GBA3 (Glucosylceramidase Beta 3 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with GBA3 include Gaucher's Disease. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-glucosidase activity. An important paralog of this gene is LCT.

UniProtKB/Swiss-Prot Summary for GBA3 Gene

Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides (PubMed:11389701, 11784319, 20728381, 26724485, 17595169, 33361282). Has a significant glucosylceramidase activity in vitro (PubMed:26724485, 17595169). However, that activity is relatively low and its significance in vivo is not clear (PubMed:26724485, 17595169, 20728381). Hydrolyzes galactosylceramides/GalCers, glucosylsphingosines/GlcSphs and galactosylsphingosines/GalSphs (PubMed:17595169). However, the in vivo relevance of these activities is unclear (PubMed:17595169). It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics (PubMed:11784319). Possesses transxylosylase activity in vitro using xylosylated ceramides/XylCers (such as beta-D-xylosyl-(1<->1')-N-acylsphing-4-enine) as xylosyl donors and cholesterol as acceptor (PubMed:33361282). Could also play a role in the catabolism of cytosolic sialyl free N-glycans (PubMed:26193330). ( GBA3_HUMAN,Q9H227 )

Tocris Summary for GBA3 Gene

• Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.