Health / Medical Topics |
FANCL wt Allele
Human FANCL wild-type allele is located in the vicinity of 2p16.1 and is approximately 82 kb in length. This allele, which encodes E3 ubiquitin-protein ligase FANCL protein, plays a role in the modulation of both protein ubiquitination and Fanconi anemia complex-mediated DNA repair. Mutation of the gene is associated with Fanconi anemia. (NCI Thesaurus)
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