APTX抗原（重組蛋白）

Full name:

aprataxin

Synonyms:

AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT

Swissprot:

Q7Z2E3

Gene Accession:

BC001628

Purity:

>85%, as determined by Coomassie blue stained SDS-PAGE

Expression system:

Escherichia coli

Tags:

His tag C-Terminus, GST tag N-Terminus

Background:

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.