GON7 Chromosome 14
GON7 subunit of KEOPS complex
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What This Gene Does
Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol; nucleolus; and nucleoplasm. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
KEOPS complex
Locus Type
gene with protein product
Location
14q32.12
Ensembl
ENSG00000170270
Associated Conditions (2)
Galloway-Mowat syndrome 9
Galloway-Mowat syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1218573239 | Health Risk | Pathogenic | Galloway-Mowat syndrome 9, Galloway-Mowat syndrome, Galloway-Mowat syndrome 9 |
| RS2140095097 | Health Risk | Pathogenic | Galloway-Mowat syndrome 9, Galloway-Mowat syndrome 9 |