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FTSJ1 - FtsJ RNA 2'-O-methyltransferase 1
- Synonym(s) : CDLIV, JM23, SPB1, TRM7, TRMT7, tRNA methyltransferase 7 homolog (S. cerevisiae)
- Previous symbols and names : FtsJ RNA methyltransferase homolog 1, FtsJ RNA methyltransferase homolog 1 (E. coli), MRX44, MRX9, mental retardation, X-linked 44, mental retardation, X-linked 9
- Type : gene with protein product
- Chromosomal location : Xp11.23
- OMIM: 300499
- HGNC: 13254
- UniProtKB: Q9UET6
- Genatlas: FTSJ1
- Ensembl: ENSG00000068438
- IUPHAR-DB: -
- Reactome: Q9UET6
- LOVD: FTSJ1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in X-linked non-syndromic intellectual disability
ORPHA:777 
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
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