6hq9

Structural highlights

Disease

[ER6L2_HUMAN] Pancytopenia-developmental delay syndrome. The disease is caused by mutations affecting the gene represented in this entry.

Function

[ER6L2_HUMAN] May be involved in early DNA damage response.^[1]

References

1. ↑ Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal I. ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. Am J Hum Genet. 2014 Feb 6;94(2):246-56. doi: 10.1016/j.ajhg.2014.01.007. PMID:24507776 doi:http://dx.doi.org/10.1016/j.ajhg.2014.01.007