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GATC
glutamyl-tRNA amidotransferase subunit C
GATC is located on the long (q) arm of chromosome 12, at band 12q24.31. Arm ratio per GRCh38 - banding schematic.
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Overview
The GATC gene, located on chromosome 12, encodes the C subunit of glutamyl-tRNA amidotransferase, an enzyme complex involved in protein synthesis. Transfer RNA molecules act as adaptors that read the genetic code and deliver amino acids to growing protein chains. The complex containing the GATC protein modifies certain transfer RNA molecules by converting specific glutamyl groups into glutaminyl groups, ensuring accurate protein production.
Whilst research into GATC continues, the gene is not currently included in routine clinical genetic testing panels in the UK. Understanding genes involved in fundamental cellular processes such as protein synthesis helps researchers investigate how variations might affect cellular function.
What the gene does
The protein encoded by GATC forms part of a three-subunit enzyme complex alongside proteins from the QRSL1 and GATB genes. This complex performs a post-transcriptional modification essential for proper transfer RNA function. Specifically, it converts mischarged glutamyl-tRNA molecules into the correct glutaminyl-tRNA form, ensuring that the cellular machinery interprets the genetic code accurately during translation.
This amidotransferase activity occurs in both the cytoplasm and mitochondria, reflecting the dual compartmentalisation of protein synthesis within human cells. The GATC subunit contributes to the overall structural integrity and catalytic function of the complex. Proper activity of this enzyme system supports the fidelity of protein production, which underpins virtually every aspect of cellular function, from metabolism to structural maintenance.
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Chromosome location
GATC is located at chromosomal position 12q24.31 on the long arm of chromosome 12. This region sits towards the distal end of the chromosome, a genomic neighbourhood containing numerous genes involved in diverse cellular processes. The specific exon structure and transcript variants of GATC have been catalogued in genomic databases, though detailed structural annotations remain an area of ongoing research.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. Current structural understanding is based primarily on sequence homology and the known requirement for the GATC protein to interact with the other subunits of the glutamyl-tRNA amidotransferase complex. Further biochemical studies may illuminate specific functional regions within the protein sequence.
Key variants
As with most human genes, GATC exhibits naturally occurring genetic variation across populations. Some sequence changes are common polymorphisms with no known clinical consequence, whilst others may affect protein function. The inheritance pattern associated with clinically relevant GATC variants has not been definitively established, reflecting the early stage of clinical investigation for this gene.
No pathogenic or likely-pathogenic ClinVar variants recorded yet for this gene.
Associated conditions
Currently, GATC is not definitively associated with any Mendelian disorders or cancer predisposition syndromes in clinical genetic databases. Research into genes involved in fundamental processes such as tRNA modification continues, and future studies may clarify whether specific variants contribute to human disease. At present, the gene's role in clinical genetics remains under investigation.
No disease links recorded for this gene in our reference set.
UK clinical status
Frequently asked questions
What does the GATC gene do?
GATC encodes one subunit of an enzyme complex that modifies transfer RNA molecules, ensuring they correctly match amino acids to the genetic code during protein synthesis. This process is essential for producing functional proteins in all cells.
Is GATC tested in NHS genetic screening?
GATC is not currently included in NHS clinical genetic testing panels. It does not appear on carrier screening or cancer predisposition gene lists used in routine healthcare settings.
What is the inheritance pattern for GATC-related conditions?
The inheritance pattern for clinically relevant GATC variants has not been established, as the gene is not yet definitively linked to any recognised inherited conditions. Research in this area is ongoing.