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LRPPRC - leucine rich pentatricopeptide repeat containing
- Synonym(s) : GP130, LRP130
- Previous symbols and names : LSFC, Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)
- Type : gene with protein product
- Chromosomal location : 2p21
- OMIM: 607544
- HGNC: 15714
- UniProtKB: P42704
- Genatlas: LRPPRC
- GenCC: LRPPRC
- Ensembl: ENSG00000138095
- IUPHAR-DB: -
- Reactome: P42704
- LOVD: LRPPRC
Diseases list
- Disease-causing germline mutation(s) in Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
ORPHA:70472

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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