Search results
Results From The WOW.Com Content Network
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).
16002 Ensembl ENSG00000167244 ENSMUSG00000048583 UniProt P01344 P09535 RefSeq (mRNA) NM_001291862 NM_000612 NM_001007139 NM_001127598 NM_001291861 NM_001122736 NM_001122737 NM_010514 NM_001315488 NM_001315489 RefSeq (protein) NP_000603 NP_001007140 NP_001121070 NP_001278790 NP_001278791 NP_001116208 NP_001116209 NP_001302417 NP_001302418 NP_034644 Location (UCSC) Chr 11: 2.13 – 2.16 Mb Chr 7 ...
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 ...
There are three types of Dockerin domains: I, II and III which bind to Cohesin Type I, Cohesin Type II and Cohesin Type III respectively. A type I dockerin domain is 65-70 residues long. [5] The binding specificity of Type I interaction was well studied by structural and mutagenesis studies. Type II interaction is less well characterized. [6]
Avalglucosidase alfa is composed of the human GAA enzyme that is conjugated with a couple of bis-mannose-6-phosphate (bis-M6P) tetra-mannose glycans. [12] The bis-MGP of avalglucosidase alpha binds to the cation-independent mannose-6-phosphate receptor which is located on the skeletal muscles. [12]