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- Q1516888 subject Q8493015.
- Q1516888 abstract "Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins, and serves as a marker for them to be targeted to lysosomes within the cell. Without this marker, the proteins are instead excreted outside the cell—the default pathway for proteins moving through the Golgi apparatus. Lysosomes cannot function without these proteins, which function as catabolic enzymes for the normal breakdown of substances (e.g. oligosaccharides, lipids, and glycosaminoglycans) in various tissues throughout the body (i.e. fibroblasts). As a result, a buildup of these substances occurs within lysosomes because they cannot be degraded, resulting in the characteristic I-cells, or "inclusion cells." These cells can be identified under the microscope. In addition, the defective lysosomal enzymes normally found only within lysosomes are instead found in high concentrations in the blood.".
- Q1516888 icd10 "E77.0".
- Q1516888 icd9 "272.7".
- Q1516888 meshId "D009081".
- Q1516888 omim "252500".
- Q1516888 thumbnail Mannose-6-phosphate.svg?width=300.
- Q1516888 wikiPageExternalLink home.html.
- Q1516888 wikiPageExternalLink www.hideandseek.org.
- Q1516888 wikiPageExternalLink NBK1828.
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- Q1516888 wikiPageWikiLink Q83330.
- Q1516888 wikiPageWikiLink Q8493015.
- Q1516888 wikiPageWikiLink Q9644.
- Q1516888 icd "272.7".
- Q1516888 icd "E77.0".
- Q1516888 meshid "D009081".
- Q1516888 name "I-cell disease".
- Q1516888 omim "252500".
- Q1516888 type Disease.
- Q1516888 type Thing.
- Q1516888 type Q12136.
- Q1516888 comment "Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins, and serves as a marker for them to be targeted to lysosomes within the cell.".
- Q1516888 label "I-cell disease".
- Q1516888 depiction Mannose-6-phosphate.svg.
- Q1516888 name "I-cell disease".