neuronal ceroid lipofuscinosis

Summary
Synonym
  • hereditary ceroid lipofuscinosis
Super Class
lipid storage disease
Disease Ontology
DOID:14503
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6648 SOD2 superoxide dismutase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
54397 Ppt2 palmitoyl-protein thioesterase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
31805 Ppt1 Palmitoyl-protein thioesterase 1
45380 spin spinster
Displaying 1 entry
Gene ID Gene Symbol Description Source
191744 ppt-1 Palmitoyl-protein thioesterase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04179 Superoxide dismutase [Mn], mitochondrial
Displaying 1 entry
UniProt ID Protein Name Source
O35448 Lysosomal thioesterase PPT2
Displaying 1 entry
UniProt ID Protein Name Source
Q20390 Palmitoyl-protein thioesterase 1

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: March 31, 2025