Gene: APTX

Alternate names for this Gene: AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9p21.1

Description of this Gene: aprataxin

Type of Gene: protein-coding

rs104894103 in APTX gene and ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA PMID 12629250 2003 Phenotypic variability of aprataxin gene mutations.

PMID 11586300 2001 The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

PMID 14506070 2003 Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.

PMID 21465257 2011 Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

PMID 15790557 2005 Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.

PMID 15699391 2005 Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.

PMID 17242337 2007 Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.

PMID 11176957 2001 Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 12196655 2002 Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.

PMID 11586299 2001 Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.

PMID 15852392 2005 Very late onset in ataxia oculomotor apraxia type I.

PMID 24362567 2014 Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

rs10813912 in APTX gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 26414677 2015 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

rs4879628 in APTX gene and Amyotrophic Lateral Sclerosis PMID 26580837 2016 A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population.

rs1114167423 in APTX gene and Athetosis PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1114167423 in APTX gene and Cerebellar Ataxia PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1114167423 in APTX gene and Dysarthria PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1114167423 in APTX gene and Oculomotor apraxia PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs1114167423 in APTX gene and Reduced tendon reflexes PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.