APTX

Description

The APTX (aprataxin) is a protein-coding gene located on chromosome 9.

The APTX gene provides instructions for making a protein called aprataxin that is involved in the repair of DNA damage in cells. Aprataxin is located in the nucleus of cells and is produced in various tissues, including the brain, spinal cord, and muscles. Different parts of the aprataxin protein allow the protein to interact with other DNA repair proteins to make repairs. At the site of the damage, aprataxin modifies the broken ends of the DNA strands so they can be joined back together correctly.

Aprataxin is a DNA-binding protein involved in repairing broken DNA strands. It helps fix single-strand breaks, double-strand breaks, and damage caused by faulty base removal (base excision repair). Aprataxin helps resolve incomplete repairs, such as when DNA ligases try to join broken strands that can‘t be joined, especially if the damage was caused by reactive oxygen species. It removes adenylate groups from DNA ends, which allows the broken ends to be reattached. Aprataxin also removes adenosine 5‘-monophosphoramidate (AMP-NH2) and diadenosine tetraphosphate (AppppA) from DNA, although it‘s less effective at this than removing adenylate groups. Similarly, it removes guanosine and inosine from DNA but is better at removing adenosine. These activities are supported by evidence from various research studies (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567, PubMed:16547001).

APTX is also known as AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing