Aliases for ERCC6L2 Gene
External Ids for ERCC6L2 Gene
Previous HGNC Symbols for ERCC6L2 Gene
Previous GeneCards Identifiers for ERCC6L2 Gene
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]
GeneCards Summary for ERCC6L2 Gene
ERCC6L2 (Excision Repair Cross-Complementation Group 6-Like 2) is a Protein Coding gene. Diseases associated with ERCC6L2 include bone marrow failure syndrome 2 and pancytopenia-developmental delay syndrome. GO annotations related to this gene include ATP-dependent helicase activity. An important paralog of this gene is ERCC6.
UniProtKB/Swiss-Prot for ERCC6L2 Gene
May be involved in early DNA damage response.