Senataxin -- SETX

• Large 2677 amino acids
• Coiled-coil domain composed of helices
  
• Involved in DNA ds-break response
• Found in cytoplasm and nucleoplasm
  
• Binds nucleotides and ATP
• UvrD Helicase domain at C-term http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=127317
  
• Phosphoprotein (PTM -- post translational modification)
  
• No PDB structures yet
• Paralogs of UPF1 and IGHMBP2 proteins
• Homologs of yeast SEN1P, chimps, mouse SETX
• OMIM ( disease, Online Mendelian Inheritance in Men) -- ALS4 and AOA2 -- neurodegenerative disease that causes poor coordination with hands, eyes, limbs, speech.
  
• http://www.uniprot.org/uniprot/Q7Z333#section_comments

•  NP_055861 , Q7Z333

• http://www.genecards.org/cgi-bin/carddisp.pl?gene=Setx
• 1-Litre of Tears
• 3 isoforms