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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 ...
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.
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.
Miglustat is indicated to treat adults with mild to moderate type I Gaucher disease for whom enzyme replacement therapy is unsuitable. [14]In the European Union, miglustat (Opfolda), in combination with cipaglucosidase alfa, is a long-term enzyme replacement therapy in adults with late-onset Pompe disease (acid α‑glucosidase [GAA] deficiency).
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.
950 12492 Ensembl ENSG00000138760 ENSMUSG00000029426 UniProt Q14108 O35114 RefSeq (mRNA) NM_005506 NM_001204255 NM_007644 RefSeq (protein) NP_001191184 NP_005497 NP_031670 Location (UCSC) Chr 4: 76.16 – 76.23 Mb Chr 5: 92.59 – 92.65 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Lysosomal integral membrane protein 2 (LIMP-2) is a protein that in humans is encoded by the SCARB2 ...
Every day, Donald Trump shatters previous understandings of the presidency and America’s role in the world. But in his rush to wield vast power and fulfill campaign promises, the new commander ...
Domain I contains a COOH terminal with a disulfide loop; domain II lacks this COOH terminal disulfide loop . Based on the resemblance of the disulfide loop present on vasopressin and oxytocin, it is suggested that the hormones form covalent linkages to this disulfide loop present on the COOH terminal of domain I. [ 4 ]