Recombinant Human APTX cell lysate

• Cat.No.: APTX-103HCL

Specification

• Description: This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined.
• Species: Human
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot

Gene Information

• Gene Name: APTX aprataxin [ Homo sapiens ]
• Official Symbol: APTX
• Synonyms: AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT; aprataxin; forkhead-associated domain histidine triad-like protein
• Gene ID: 54840
• mRNA Refseq: NM_001195248
• Protein Refseq: NP_001182177
• MIM: 606350
• UniProt ID: Q7Z2E3
• Chromosome Location: 9p13.3
• Function: DNA 5'-adenosine monophosphate hydrolase activity; double-stranded DNA binding; phosphoglycolate phosphatase activity