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FTSJ1
FtsJ RNA 2'-O-methyltransferase 1
The FTSJ1 gene provides instructions for making an enzyme involved in modifying RNA, with implications for neurological development and intellectual disability. FTSJ1 is a gene that codes for FtsJ RNA 2'-O-methyltransferase 1, an enzyme critical for RNA modification.
FTSJ1 is located on the short (p) arm of chromosome X, at band Xp11.23. Arm ratio per GRCh38 - banding schematic.
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Overview
The FTSJ1 gene, also known as FtsJ RNA 2'-O-methyltransferase 1, is located on the X chromosome. It provides the genetic blueprint for an enzyme that plays a part in modifying RNA molecules. These modifications are essential for the proper functioning and synthesis of various proteins within cells, particularly in the brain. Understanding FTSJ1's function is important due to its association with certain neurodevelopmental conditions.
What the gene does
The FTSJ1 gene produces an enzyme named FtsJ RNA 2'-O-methyltransferase 1. This enzyme's primary function is to modify RNA molecules through a process called methylation. Such modifications are crucial for the stability and correct processing of RNA, which in turn influences gene expression and the creation of proteins. Within the nervous system, these molecular processes are vital for the development and communication of neurons, suggesting FTSJ1 has a role in neurological functions.
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Chromosome location
The FTSJ1 gene is situated on the short arm of the X chromosome, specifically at position Xp11.23. As a gene located on the X chromosome, its inheritance pattern can differ between males and females. The human FTSJ1 gene produces a protein composed of 329 amino acids.
Protein structure
The FTSJ1 protein, or FtsJ RNA 2'-O-methyltransferase 1, consists of 329 amino acids. A specific region within this protein, spanning amino acids 221-240, is known to be required for binding to another protein called WDR6. This interaction is likely significant for the FTSJ1 enzyme's function or its broader involvement within cellular pathways.
Key variants
Variants within the FTSJ1 gene can influence its ability to produce a functional enzyme, which in turn may affect RNA modification processes. These genetic changes can range from single nucleotide substitutions to larger deletions or insertions, and their impact on protein function can vary from mild to severe, potentially leading to altered cellular processes and clinical outcomes. Although FTSJ1 is on the X chromosome, the inheritance pattern associated with intellectual disability is described as polygenic.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.655G>A | p.Asp219Asn | Pathogenic | ★★☆☆ | Intellectual disability, X-linked 9 |
c.133del | p.Ala45fs | Pathogenic | ★☆☆☆ | Inborn genetic diseases |
c.34T>A | p.Tyr12Asn | Pathogenic | ★☆☆☆ | Inborn genetic diseases |
c.352del | p.Ala118fs | Pathogenic | ★☆☆☆ | Inborn genetic diseases |
c.362-2A>T | - | Pathogenic | ★☆☆☆ | Intellectual disability |
c.61_64del | p.Trp21fs | Pathogenic | ★☆☆☆ | not provided |
c.121+1del | - | Pathogenic | - | Intellectual disability, X-linked 9 |
c.192-2A>G | - | Pathogenic | - | Intellectual disability, X-linked 9 |
c.196C>T | p.Gln66Ter | Pathogenic | - | Intellectual disability, X-linked 9 |
c.256del | p.Val86fs | Pathogenic | - | Intellectual disability, X-linked 9 |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variants in the FTSJ1 gene have been associated with intellectual disability. This suggests that a properly functioning FTSJ1 enzyme is important for normal cognitive development and neurological health. Individuals with certain FTSJ1 variants may experience a range of developmental and cognitive challenges.
No disease links recorded for this gene in our reference set.
UK clinical status
FTSJ1 is recognised within the NHS Genomic Medicine Service due to its clinical relevance. It is present on the DDG2P panel and the Intellectual disability (R29) panel, indicating that genetic testing for variants in FTSJ1 may be considered as part of the diagnostic process for individuals presenting with developmental disorders or intellectual disability in the UK.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the FTSJ1 gene?
The FTSJ1 gene provides instructions for making an enzyme vital for modifying RNA molecules. These modifications are crucial for the proper function of RNA and protein synthesis, especially in neurological development.
What conditions are associated with FTSJ1 variants?
Variants in the FTSJ1 gene are associated with intellectual disability. This indicates the gene's important role in normal cognitive function and brain development.
Where is the FTSJ1 gene located?
The FTSJ1 gene is found on the X chromosome, specifically at position Xp11.23. Its location on the X chromosome means its inheritance pattern can differ between sexes.