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).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
With expertise and experiences from both sides, the collaboration between Krungsri and SBC will enhance SBF's business competitiveness while penetrating and serving the Philippines' high growth consumer finance market.'
Since inception of CHS in Mwingi west Sub County, no evaluation has been conducted to establish the effect of the intervention on SBC. This coupled with the low uptake of SBC among women in the sub-county (45%) (5) justified the need to carry out this assessment.
Boto said that the SBC's Executive Committee had "expressed deep regret over the need to take this action, but felt compelled to affirm biblical truth over organizational relationships." He added that the committee embraced a "willingness to consider resuming its relationship with the DCBC in the future," should the group act to remove Calvary Baptist from its fellowship.
SBC 240 is created by applying a "next-generation" high-barrier variant of polyvinylidene chloride (PVdC) coating to a film structure made from layers of polyethylene.
'The representatives of SBC also informed that one of the candidate who is sitting President of SHCBA has notified a committee for conducting the elections which is suspended,' the order read.
inContact will use the SBC 7000 as its primary platform for network-to-network and carrier-to-carrier connections to ensure carrier-class voice quality for its call centre customers around the globe.
The SBC concept has had strong bipartisan support, but, in practice, health insurers, consumer groups and others have agreed that the actual level of consumer use of the SBCs has been disappointing.
President, Swiss Business Council, Asif Ikram on behalf of the SBC and Director General, Sindh Board of Investment (SBI), Iftikhar Ali on behalf of the SBI Government of Sindh signed the MoU at a ceremony organized at the Consulate of Switzerland here, said a statement on Friday.
Sonus Networks Inc (Nasdaq:SONS), a provider of solutions for enabling and securing real-time communications, announced on Wednesday that One Source Networks (OSN), a provider of Unified Communications (UC) and managed cloud services, has deployed the Sonus SBC 7000 Session Border Controller (SBC) for its global Cloud Lync Enterprise offering.
(SBC Bank), a leading commercial bank in the Kingdom of Cambodia, and JCB International Co., Ltd.
(NASDAQ: AUDC) said it has released the Mediant 2600, an addition to its Session Border Controller (SBC) family, enabling interoperability and secured connectivity between enterprises and service provider VoIP networks.