共济失调性眼球运动功能丧失相关蛋白AOA1抗体

共济失调性眼球运动功能丧失相关蛋白AOA1抗体 Background: Aprataxin is a nuclear protein, present in both the nucleoplasm and the nucleolus, which is a member of the histidine triad (HIT) superfamily. Aprataxin is involved in DNA single-strand break repair, mediating protein-protein interactions with molecules responding to DNA damage. Aprataxin contains three conserved domains: an N-terminal forkhead-associated (FHA) domain which mediates protein-protein interactions, a HIT domain that is similar to Hint, and a C-terminal zinc finger domain. Loss of function mutations in APTX, the gene encoding for Aprataxin, destabilize the Aprataxin protein and result in a rare neurological disorder known as ataxia-oculomotor apraxia, characterized by abnormal movements of the head and eyes. These mutations either target the HIT domain or truncate the protein N-terminal to a zinc finger. Also known as: AOA 1; AOA; AOA; AOA1; AOA1; Aprataxin; Aprataxin; Aprataxin homolog; APTX; APTX; APTX_HUMAN; Ataxia 1 early onset with hypoalbuminemia; Ataxia 1 early onset with hypoalbuminemia; Ataxia1 early onset with hypoalbuminemia; AXA 1; AXA1; AXA1; EAOH; EAOH; EOAHA; EOAHA; FHA HIT; FHA HIT; FHA-HIT; FLJ20157; FLJ20157; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like protein; Forkhead-associated domain histidine triad-like protein; MGC1072; MGC1072.共济失调性眼球运动功能丧失相关蛋白AOA1抗体