該基因編碼fanconi貧血補體b組的一個成員。該蛋白被組裝成一個核蛋白復合物,參與dna損傷的修復。該基因突變可導致染色體不穩定和腦積水的Vacterl綜合征。[由RefSeq提供,2016年4月]
This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]