ANKZF1 Chromosome 2
Ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
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What This Gene Does
Enables RNA endonuclease activity and catalytic activity, acting on a tRNA. Involved in cellular response to hydrogen peroxide; protein quality control for misfolded or incompletely synthesized proteins; and rescue of stalled ribosome. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Ankyrin repeat domain containing"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000163516
Associated Conditions (1)
ANKZF1-related disorder
Key Variants
RS1307253731
Conflicting classifications of pathogenicity
Health Risk
RS1325261678
Conflicting classifications of pathogenicity
ANKZF1-related disorder, ANKZF1-related disorder
Health Risk
RS202012817
Conflicting classifications of pathogenicity
Health Risk
RS373389031
Conflicting classifications of pathogenicity
Health Risk
RS533560027
Conflicting classifications of pathogenicity
Health Risk
RS759912179
Conflicting classifications of pathogenicity
Health Risk
RS765554137
Conflicting classifications of pathogenicity
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1307253731 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1325261678 | Health Risk | Conflicting classifications of pathogenicity | ANKZF1-related disorder, ANKZF1-related disorder |
| RS202012817 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373389031 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS533560027 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759912179 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765554137 | Health Risk | Conflicting classifications of pathogenicity | — |