Gene Symbol | APTX |
Entrez Gene ID | 54840 |
Full Name | aprataxin |
Synonyms | AOA,AOA1,AXA1,EAOH,EOAHA,FHA-HIT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) |