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β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). [5]
The disease is caused by a defect in the housekeeping gene for lysosomal glucocerebrosidase (also known as beta-glucosidase, EC 3.2.1.45 ) on the first chromosome (1q22). The enzyme is a 55.6- kilodalton , 497- amino acid -long protein that catalyses the breakdown of glucocerebroside, a cell membrane constituent of red and white blood cells .
The GBA gene encodes for glucocerebrosidase (GCase) which is a lysosomal enzyme that breaks down glucosylceramide into glucose. In the context of Parkinson's, mutations in GBA occur at a higher frequency than other genes indicated in PD.
Incidentally, both gain-of-function and loss-of-function GBA mutations are proposed to contribute to parkinsonism through effects such as increased alpha-synuclein levels. [26] In patients with Parkinson's disease, the OR for carrying a GBA mutation was 5·43 (95% CI 3·89–7·57), confirming that mutations in this gene are a common risk ...
In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. [1] Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome.
n/a Ensembl ENSG00000160766 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) Chr 1: 155.21 – 155.23 Mb n/a PubMed search n/a Wikidata View/Edit Human Glucosidase, beta; acid, pseudogene, also known as GBAP, is a human gene. References ^ a b c GRCh38: Ensembl release 89: ENSG00000160766 – Ensembl, May 2017 ^ "Human PubMed Reference:". National Center for ...
The main known risk factor is age. Mutations in genes such as α-synuclein (SNCA), leucine-rich repeat kinase 2 (LRRK2), glucocerebrosidase (GBA), and tau protein (MAPT) can also cause hereditary PD or increase PD risk. [27] While PD is the second most common neurodegenerative disorder, problems with diagnoses still persist. [28]
Sidransky's research includes both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first identified glucocerebrosidase as a risk factor for parkinsonism. She led two large international collaborative studies regarding the genetics of Parkinson's disease and dementia with Lewy bodies.