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 ?
National Sales Manager Mark Martinez will demonstrate Kleer Drain live on air using a specially-designed sink with clear piping so viewers will be able to see the product's effectiveness at clearing clogs.
Headwaters' proposed acquisition of Kleer Lumber, which is targeted to close by December 31, 2012, is subject to customary closing conditions.
In addition, Gekko's kezia 50 and 200 hard-source LED luminaires, both of which incorporate kleer colour technology, received a Pick Hit award from Broadcast Engineering magazine.
Number of employees: 93 VP, Production/Group Publisher: Diane Kleer (dkleer@annexweb.
Just because a new category of articles will be used in the Journal, do not overlook the idea that you can still write and submit a short opinion article for "Kristal Kleer," do not think that the Letter from the President and other standing features of the Journal will not be included, and that Betty and DeeAnn will stop looking for news items.
VP, Production/Group Publisher: Diane Kleer (dkleer@annexweb.
The SMS Audio product line also includes the STREET by 50 Wired Over-Ear headphones, (available in limited edition colors), as well as STREET by 50 In-Ear Wired, Wired DJ Pro Performance, and SYNC by 50 Over-Ear Wireless headphones--which integrate Kleer wireless technology to allow up to four listeners to rock simultaneously from a single source.
However, in this age of the digital native, it is Kristal Kleer to me that all institutions of postsecondary education must fight to maintain their libraries and continue to emphasize the importance of libraries to their students.
Sebastian de Kleer, the company president and founder, said 'We're best known for our Southern California beach and Palm Springs locations - 'from the desert to the sea' - as we like to say.
However, it's the Arcam's Kleer streaming skills that put it above the baby on our most wanted list - the wireless USB and iPhone dongles just aren't compatible with infants.
PVC TrimWelder adhesives for cellular PVC lumber and architectural trim have been approved by AZEK, Versatex, KLEER and KOMA brands.
Cheville JC, Dundore PA, Nascimento AG, Meneses M, Kleer E, Farrow GM, et al.