FTSJ1 FtsJ RNA 2'-O-methyltransferase 1
Gene ID: 24140, updated on 10-Oct-2024Gene type: protein coding
Also known as: JM23; MRX9; SPB1; CDLIV; MRX44; TRMT7; XLID9
- See all available tests in GTR for this gene
- Go to complete Gene record for FTSJ1
- Go to Variation Viewer for FTSJ1 variants
Summary
This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Intellectual disability, X-linked 9 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2023-03-22) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2023-03-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- Xp11.23
- Sequence:
- Chromosome: X; NC_000023.11 (48476021..48486364)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FTSJ1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FTSJ1 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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