FANCA


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FANCA

A gene on chromosome 16q24.3 that encodes a protein of the Fanconi anaemia complementation group (here, complementation group A), the members of which are related not by sequence similarity, but rather by their assembly into a common nuclear protein complex.
References in periodicals archive ?
FANCA mutations account for the highest percentage of FA patients worldwide as documented by the IFAR.
Two large international studies characterised the clinical phenotype of individuals with different mutations in the FANCA gene.
17,18] It is now known that the majority of Afrikaner patients with FA harbour founder FANCA mutations as the cause of their condition.