The Aprataxin gene was identified by linkage analysis as the defective gene in the neurogenerative disorder ataxia with oculomotor apraxia type 1 (AOA1) which is characterized by cerebellar ataxia, peripheral neuropathy, and hypoalbuminemia. Aprataxin functions in the DNA damage response and is involved in single-strand and double-strand break repair, and base excision repair.
Alternative names for
Aprataxin Antibody include
Forkhead-associated domain histidine triad-like protein antibody,
forkhead-associated domain histidine triad-like protein antibody.