Anti-ER6L2

This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014], Protein function: May be involved in early DNA damage response. [The UniProt Consortium] Recommended dilutions: WB 1:500-2000. Cellular localization: nucleus,mitochondrion,microtubule organizing center,