Recombinant Human APTX protein

• Cat.No.: APTX-1540H
• Product Overview: Recombinant protein was expressed in and purified from E. coli.

Specification

• Description: Aprataxin is the product of the AOA1 (ataxia-ocular apraxia) gene. Mutation in this gene results in a human neurodegenerative disease with early onset ataxia with ocular motor apraxia and hypoalbuminemia. Aprataxin interacts with XRCC1. This protein is likely involved in DNA repair of single strand breaks.
• Source: E. coli
• Species: Human
• Form: 20 mM Tris-HCl, pH 7.5, 300 mM NaCl, 200 mM imidazole, 10% glycerol.
• Molecular Mass: 20 kDa

Gene Information

• Gene Name: APTX aprataxin [ Homo sapiens ]
• Official Symbol: APTX
• Synonyms: APTX; aprataxin; AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
• Gene ID: 54840
• mRNA Refseq: NM_001195248.1
• Protein Refseq: NP_001182177.1
• MIM: 606350
• UniProt ID: Q7Z2E3