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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
APTX
aprataxin
Chromosome 9 Β· 9p21.1
NCBI Gene: 54840Ensembl: ENSG00000137074.20HGNC: HGNC:15984UniProt: A0A5K1VW64
97PubMed Papers
21Diseases
0Drugs
41Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmdouble-stranded DNA bindingphosphoprotein bindingchromatin bindingataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAtaxia - oculomotor apraxia type 1genetic disorderDystonia
✦AI Summary

APTX (aprataxin) is a DNA-binding protein and RNA-DNA deadenylase that protects genome integrity by resolving abortive DNA ligation intermediates 1. Its primary function is removing 5'-adenosine monophosphate (AMP) groups from DNA strand breaks generated when DNA ligases fail to complete repair of non-ligatable breaks induced by reactive oxygen species 1. APTX catalyzes this adenylate hydrolysis through a wedge-pivot-cut mechanism, producing 5'-phosphate termini suitable for efficient DNA religation 1. The enzyme functions in single-strand break repair (SSBR) and base excision repair (BER) pathways, where it works with XRCC1 to remove blocking groups at damage sites 2. APTX also participates in double-strand break repair, acting independently of XRCC4 in this pathway 3. Mutations in APTX cause ataxia-oculomotor apraxia 1 (AOA1), a neurodegenerative disorder 1. AOA1 mutations impair APTX through multiple mechanisms: sixteen variants destabilize the protein, one alters catalytic chemistry, and others allosterically disrupt active site conformations 1. APTX deficiency produces secondary CoQ10 deficiency and cerebellar ataxia 4. Critically, APTX functions in both nuclear and mitochondrial compartments; mitochondrial repair is particularly vulnerable to APTX loss, as mtDNA repair cannot compensate for APTX deficiency, leading to accumulation of mitochondrial DNA damage and dysfunction 5.

Sources cited
1
APTX structure, deadenylase mechanism, AOA1 mutations, and differential impacts on protein stability and catalytic activity
PMID: 29934293
2
APTX recruitment to DNA damage requires XRCC1 phosphorylation and interaction with the FHA domain
PMID: 29477978
3
APTX acts in double-strand break repair distinctly from XRCC4, with XRCC1-dependent recruitment
PMID: 36940705
4
APTX mutations cause secondary CoQ10 deficiency associated with cerebellar ataxia
PMID: 19096106
5
APTX deficiency causes slow mitochondrial 5'-AMP repair and accumulation of mtDNA damage
PMID: 26256098
Disease Associationsβ“˜21
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaOpen Targets
0.83Strong
Ataxia - oculomotor apraxia type 1Open Targets
0.83Strong
genetic disorderOpen Targets
0.47Moderate
DystoniaOpen Targets
0.46Moderate
epilepsyOpen Targets
0.34Weak
hereditary ataxiaOpen Targets
0.34Weak
ovarian neoplasmOpen Targets
0.28Weak
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2Open Targets
0.18Weak
coenzyme Q10 deficiency, primary, 1Open Targets
0.11Weak
cervical cancerOpen Targets
0.07Suggestive
FRAXF syndromeOpen Targets
0.05Suggestive
mosaic variegated aneuploidy syndrome 4Open Targets
0.05Suggestive
COVID-19Open Targets
0.05Suggestive
AtaxiaOpen Targets
0.04Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.04Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.04Suggestive
hyperostosis corticalis generalisataOpen Targets
0.03Suggestive
cataract - microcornea syndromeOpen Targets
0.03Suggestive
Cataract-microcornea syndromeOpen Targets
0.03Suggestive
aniridiaOpen Targets
0.03Suggestive
Ataxia-oculomotor apraxia syndromeUniProt
Pathogenic Variants41
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)Pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|not provided|Inborn genetic diseases|APTX-related disorder|Hereditary ataxia
β˜…β˜…β˜†β˜†2026β†’ Residue 279
NM_001195248.2(APTX):c.46C>T (p.Arg16Ter)Pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 16
NM_001195248.2(APTX):c.596del (p.Arg199fs)Pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
β˜…β˜…β˜†β˜†2025β†’ Residue 199
NM_001195248.2(APTX):c.835T>C (p.Trp279Arg)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 279
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)Pathogenic
not provided|Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
β˜…β˜…β˜†β˜†2025β†’ Residue 42
NM_001195248.2(APTX):c.559C>T (p.Gln187Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 187
NM_001195248.2(APTX):c.739C>T (p.Arg247Ter)Pathogenic
not provided|Epilepsy
β˜…β˜…β˜†β˜†2024β†’ Residue 247
NM_001195248.2(APTX):c.388C>T (p.Gln130Ter)Pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 130
NM_001195248.2(APTX):c.593C>T (p.Ala198Val)Likely pathogenic
not provided|Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
β˜…β˜…β˜†β˜†2022β†’ Residue 198
NM_001195248.2(APTX):c.776del (p.Val259fs)Pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
β˜…β˜…β˜†β˜†2019β†’ Residue 259
NM_001195248.2(APTX):c.875-2A>GPathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
β˜…β˜…β˜†β˜†2015
NM_001195248.2(APTX):c.841del (p.Ser281fs)Pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 281
NM_001195248.2(APTX):c.694G>T (p.Glu232Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 232
NM_001195248.2(APTX):c.601C>T (p.His201Tyr)Likely pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
β˜…β˜†β˜†β˜†2025β†’ Residue 201
NM_001195248.2(APTX):c.796C>T (p.Gln266Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 266
NM_001195248.2(APTX):c.484-1G>CLikely pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
β˜…β˜†β˜†β˜†2024
NM_001195248.2(APTX):c.874+1delLikely pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
β˜…β˜†β˜†β˜†2024
NM_001195248.2(APTX):c.935_941delinsAAG (p.Leu312fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 312
NM_001195248.2(APTX):c.603T>A (p.His201Gln)Likely pathogenic
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
β˜…β˜†β˜†β˜†2023β†’ Residue 201
NM_001195248.2(APTX):c.397_407dup (p.Gly137fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 137
View on ClinVar β†—
Related Genes
LIG4Protein interaction100%XRCC4Protein interaction100%FEN1Protein interaction100%LIG1Protein interaction100%COQ8AProtein interaction99%PDSS2Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
74%
Brain
72%
Lung
61%
Ovary
61%
Heart
57%
Gene Interaction Network
Click a node to explore
APTXLIG4XRCC4FEN1LIG1COQ8APDSS2
PROTEIN STRUCTURE
Preparing viewer…
PDB3KT9 Β· 1.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.53–0.97]
RankingsWhere APTX stands among ~20K protein-coding genes
  • #4,916of 20,598
    Most Researched97 Β· top quartile
  • #1,513of 5,498
    Most Pathogenic Variants41
  • #9,249of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedAPTX
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
PMID: 29934293
EMBO J Β· 2018
1.00
2
Human CoQ10 deficiencies.
PMID: 19096106
Biofactors Β· 2008
0.90
3
The role of TDP1 and APTX in mitochondrial DNA repair.
PMID: 24161509
Biochimie Β· 2014
0.80
4
APTX acts in DNA double-strand break repair in a manner distinct from XRCC4.
PMID: 36940705
J Radiat Res Β· 2023
0.70
5
Neurological disorders associated with DNA strand-break processing enzymes.
PMID: 27470939
Mech Ageing Dev Β· 2017
0.60