Identity
HGNC
LOCATION
9p21.1
LOCUSID
ALIAS
AOA,AOA1,AXA1,EAOH,EOAHA,FHA-HIT
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54840
MIM: 606350
HGNC: 15984
Ensembl: ENSG00000137074
Variants:
dbSNP: 54840
ClinVar: 54840
TCGA: ENSG00000137074
COSMIC: APTX
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36940705 | 2023 | APTX acts in DNA double-strand break repair in a manner distinct from XRCC4. | 1 |
| 36940705 | 2023 | APTX acts in DNA double-strand break repair in a manner distinct from XRCC4. | 1 |
| 32750061 | 2020 | Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents. | 2 |
| 32769066 | 2020 | Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. | 0 |
| 32750061 | 2020 | Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents. | 2 |
| 32769066 | 2020 | Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. | 0 |
| 30986824 | 2019 | Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells. | 15 |
| 31780661 | 2019 | Two-tiered enforcement of high-fidelity DNA ligation. | 17 |
| 30986824 | 2019 | Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells. | 15 |
| 31780661 | 2019 | Two-tiered enforcement of high-fidelity DNA ligation. | 17 |
| 29934293 | 2018 | Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease. | 7 |
| 29934293 | 2018 | Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease. | 7 |
| 27470939 | 2017 | Neurological disorders associated with DNA strand-break processing enzymes. | 19 |
| 28652255 | 2017 | Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. | 2 |
| 27470939 | 2017 | Neurological disorders associated with DNA strand-break processing enzymes. | 19 |
Citation
Dessen P
APTX (aprataxin)
Atlas Genet Cytogenet Oncol Haematol. 2004-02-01
Online version: http://atlasgeneticsoncology.org/gene/683/aptx
