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SEPSECS - Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
- Synonym(s) : O-phosphoseryl-tRNA(Sec) selenium transferase, SLA, SLA/LP, soluble liver antigen/liver pancreas antigen
- Previous symbols and names : _
- Type : gene with protein product
- Chromosomal location : 4p15.2
- OMIM: 613009
- HGNC: 30605
- UniProtKB: Q9HD40
- Genatlas: SEPSECS
- GenCC: SEPSECS
- Ensembl: ENSG00000109618
- IUPHAR-DB: -
- Reactome: Q9HD40
- LOVD: SEPSECS
Diseases list
- Disease-causing germline mutation(s) in Pontocerebellar hypoplasia type 2
ORPHA:2524 
- Disease-causing germline mutation(s) in Progressive cerebello-cerebral atrophy
ORPHA:247198
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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