mucolipidosis

Summary
Definition
A lipid storage disease that is characterized by increased storage of carbohydrates and lipids.
Super Class
lipid storage disease
Disease Ontology
DOID:0080488
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4758 NEU1 neuraminidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
553365 gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q99519 Sialidase-1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025