Aliases for ERCC6L2 Gene
- Excision Repair Cross-Complementation Group 6-Like 2 2 3
- Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6-Like 2 2 3
- DNA Repair And Recombination Protein RAD26-Like 3 4
- C9orf102 3 4
- RAD26L 3 4
- Putative Repair And Recombination Helicase RAD26L 3
- Chromosome 9 Open Reading Frame 102 2
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 pancytopenia-developmental delay syndrome and bone marrow failure syndrome 2. GO annotations related to this gene include nucleic acid binding and 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.