APTX, Official Symbol APTXprovided by HGNC Official Full Name aprataxinprovided by HGNC Primary source HGNC:HGNC:15984 See related Ensembl:ENSG00000137074 MIM:606350; AllianceGenome:HGNC:15984 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all