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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
APTX-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
APTX-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
APTX-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
APTX-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
APTX-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : APTX
Gene Name : Aprataxin
Chromosome : CHR 9: 330,251,28-328,838,71
Locus : 9p21.1
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