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CLN8 - CLN8 transmembrane ER and ERGIC protein
- Synonym(s) : FLJ39417, TLCD6
- Previous symbols and names : C8orf61, CLN8, transmembrane ER and ERGIC protein, EPMR, ceroid-lipofuscinosis, neuronal 8, chromosome 8 open reading frame 61, epilepsy, progressive with mental retardation
- Type : gene with protein product
- Chromosomal location : 8p23.3
- OMIM: 607837
- HGNC: 2079
- UniProtKB: Q9UBY8
- Genatlas: CLN8
- Ensembl: ENSG00000182372
- IUPHAR-DB: -
- Reactome: -
- LOVD: CLN8
Diseases list
- Disease-causing germline mutation(s) in CLN8 disease
ORPHA:228354 
- Disease-causing germline mutation(s) in Progressive epilepsy-intellectual disability syndrome, Finnish type
ORPHA:1947
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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