XRCC4 Monoclonal Antibody(5C10), 50ul Palm Micro Centrifuges A germline mutation of VHL

A germline mutation of VHL is the basis of familial inheritance of VHL syndrome

It is similar to a rat protein which is a specific partner for the tail domain of myosin V

has both trans-activating and DNA binding activities

An important paralog of this gene is GRB14

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XRCC4 Monoclonal Antibody(5C10), 50ul Palm Micro Centrifuges A germline mutation of VHLThe protein encoded by this gene functions together with DNA ligase IV and the DNA dependent protein kinase in the repair of DNA double strand breaks. This protein plays a role in both non homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants.