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Invitrogen
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Peptide Sequence: KLRFRLGYHA IPSMSHVHLH VISQDFDSPC LKNKKHWNSF NTEYFLESQA VIEMVQEAGR VTVRDGMPEL LKLPLRCHEC QQLLPSIPQL KEHLRKHW
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Aprataxin; FHA-HIT; Forkhead-associated domain histidine triad-like protein
基因别名: AOA; AOA1; APTX; AXA1; EAOH; EOAHA; FHA-HIT
UniProt ID: (Human) Q7Z2E3
Entrez Gene ID: (Human) 54840