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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]
In enzymology, a glucosylceramidase (EC 3.2.1.45) is an enzyme that catalyzes the chemical reaction. D-glucosyl-N-acylsphingosine + H 2 O D-glucose + N-acylsphingosine. Thus, the two substrates of this enzyme are D-glucosyl-N-acylsphingosine and H 2 O, whereas its two products are D-glucose and N-acylsphingosine.
Type 2 diabetes (T2D), formerly known as adult-onset diabetes, is a form of diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. [6] Common symptoms include increased thirst , frequent urination , fatigue and unexplained weight loss . [ 3 ]
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 .
Ceramide glucosyltransferase (or glucosylceramide synthase) is a glucosyltransferase enzyme involved in the production of glucocerebrosides (also called glucosylceramides). ). It is responsible for the first step in synthesis of all glycosphingolipids—critical components of cell membranes—from sphingolipids, attaching a glucose molecule (glycosylation) to produce a glucocerebroside product
MODY 2 or GCK-MODY is a form of maturity-onset diabetes of the young. [1] It is due to any of several mutations in the GCK gene on human chromosome 7 for glucokinase. [2] Glucokinase serves as the glucose sensor for the pancreatic beta cell. Normal glucokinase triggers insulin secretion as the glucose exceeds about 90 mg/dl (5 mM).
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