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if known, give the mechanism for pathogenic effect of mad2l2 gene on fanconi anemia?

if known, give the mechanism for pathogenic effect of mad2l2 gene on fanconi anemia?

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Fanconi anemia is an inherited, bone marrow failure syndrome that results from the mutation in mad2l2/REV7 gene that normally encodes for the subunit of DNA polymerase . This DNA polymerase exhibits the property to synthesize DNA under DNA lesions condition. Thus provides resistance against various DNA lesions by polymerizing lesion site but due to the mutation in gene  mad2l2 that functional activity of DNA polymerase gets inhibited and results in supression of DNA synthesis in lesion conditions.Thus, found to the factor responsible for fanconi anemia.

gladiator answered 3 years ago
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