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ERCC6L2 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.
Gene Name: | Excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 |
Synonyms: | ERCC6L2, C9orf102, RAD26L hypothetical protein, RAD26L, SR278, Stretch responsive protein 278 |
Target Sequences: | NM_001010895 Q5T890 |
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