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Immunogen sequence: LYPYIVEFEE EAKNPGLETH RKRKRSGNSD SIERDAAQEA EAGTGLEPGS NSGQCSVPLK KGKDAPIKKE SLGHWSQGLK ISMQDPKMQV YKDEQVVVIK DKYPKARYHW LVLPWTSISS LKAVAREHLE LLKHMHTVGE KVIVDFAGSS KLRFRLGYHA IPSMSHVHLH VISQDFDSPC LKNKKHWNSF NTEYFLESQA VIEMVQEAGR VTVRDGMPEL LKLPLRCHEC QQLLPSIPQL KEHLRKHWTQ; Positive Samples: 22Rv1, A-549, K-562, BT-474, U-87MG, HT-29, Raji; Cellular Location: Cytoplasm, Nucleus, nucleolus, nucleoplasm
This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined.
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Protein Aliases: Aprataxin; FHA-HIT; Forkhead-associated domain histidine triad-like protein
Gene Aliases: AOA; AOA1; APTX; AXA1; EAOH; EOAHA; FHA-HIT
UniProt ID: (Human) Q7Z2E3
Entrez Gene ID: (Human) 54840
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