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Domain III (residues 76–381 and 416–430) is homologous to a TIM barrel and is a highly conserved domain among glycoside hydrolases. [8] Domain III harbors the active site, which binds the substrate glucocerebroside in close proximity to the catalytic residues E340 and E235. Domains I and III are tightly associated, while domains II and III ...
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.
GD type II (acute infantile neuropathic) typically begins within six months of birth and has an incidence rate of around 1 in 100,000 live births. Symptoms include an enlarged liver and spleen, extensive and progressive brain damage, eye movement disorders, spasticity , seizures , limb rigidity, and a poor ability to suck and swallow.
Neurophysins are acidic proteins with a molecular weight of approximately 10,000 Da that are rich in cysteine, glycine, and proline residues . The protein is double domain with a polypeptide chain of 93-95 residues with 14 cysteine residues forming 7 disulfide bridges .
In the absence of hormone, the glucocorticoid receptor (GR) resides in the cytosol complexed with a variety of proteins including heat shock protein 90 (), the heat shock protein 70 and the protein FKBP4 (FK506-binding protein 4). [11]
Calsequestrin is a calcium-binding protein that acts as a calcium buffer within the sarcoplasmic reticulum.The protein helps hold calcium in the cisterna of the sarcoplasmic reticulum after a muscle contraction, even though the concentration of calcium in the sarcoplasmic reticulum is much higher than in the cytosol.
A deficiency in ASAH1 is associated with Farber disease.. Human neutral ceramidase (nCDase) is an enzyme that plays a critical role in colon cancer and there are currently no potent or clinically effective inhibitors for nCDase reported to date.
Roscoe Owen Brady (October 11, 1923 – June 13, 2016) was an American biochemist. [1]He attended the Pennsylvania State University and obtained his M.D. degree from Harvard Medical School in 1947.