Full name: aprataxin

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT

Summary: 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.[provided by RefSeq, Aug 2010]

Expression: Ubiquitous expression in kidney (RPKM 2.7), testis (RPKM 2.3) and 25 other tissues

Gene size: 52505bp

Exon count: 10