APTX Chromosome 9
Aprataxin
Upload your DNA to see your personal genotypes for variants in APTX.
What This Gene Does
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Histidine triad superfamily"
Locus Type
gene with protein product
Location
9p21.1
Ensembl
ENSG00000137074
Associated Conditions (10)
Ataxia
early-onset
with oculomotor apraxia and hypoalbuminemia
Inborn genetic diseases
APTX-related disorder
Thymoma
Colon adenocarcinoma
Hepatocellular carcinoma
Hereditary ataxia
Epilepsy
Key Variants
RS111392103
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS113391831
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS140355580
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS140888559
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS141195622
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS141493373
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS144076460
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS146487634
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS1554664711
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS1828552847
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS201736194
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS367998288
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS770007531 | Health Risk | Pathogenic/Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS773393618 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS904293109 | Health Risk | Pathogenic/Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |