APTX

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APTX

A gene on chromosome 9p13.3 that encodes aprataxin, a DNA-binding protein involved in single- and double-stranded DNA break repair and base excision repair. It resolves abortive DNA ligation intermediates, formed either at base excision sites or when DNA ligases try to repair non-ligatable breaks induced by reactive oxygen species.
 
Molecular pathology
Defects of APTX cause ataxia-oculomotor apraxia syndrome, and are a cause of coenzyme Q10 deficiency (COQ10D).
References in periodicals archive ?
We are honored to receive this award from Ford and proud that they are a valued SBC customer," said Bob Ferguson, group president and CEO of SBC Enterprise Business Services.
The SBC Foundation grant to NCCEP will support GEAR UP grantees by funding after-school and summer enrichment programs in math, science, reading and technological literacy, as well as help teachers and students use technology in the classroom to enhance the teaching and learning functions and improve students' academic performance.
SBC companies expect to scale the offerings beginning in mid-2006 - adding features and functionality and entering more markets across the companies' 13-state operating region.
So far -- with the help of SBC employee volunteers -- the Cyber Cafes have provided computer literacy training to more than 1,000 individuals and currently have more than 7,000 member users.
Nonprofit organizations make a profound difference in our communities and in the lives of people across the country," said Forrest Miller, chairman of the SBC Foundation.
We appreciate the opportunity to further our relationship with one of the leading suppliers in the automotive industry," said Bob Ferguson, group president and CEO of SBC Enterprise Business Services.
SBC companies will also provide network integration services, such as SBC PremierSERV(SM) Staging, SBC PremierSERV(SM) Consulting Services and SBC Project Management.
D has also committed to a five-year agreement with SBC companies for an on-site maintenance technician to support the new network.