Vonhippel-Lindau Syndrome - Cloning And Identification Of The Plasma-Membrane Ca++-Transporting Atpase Isoform-2 Gene That Resides In The Vonhippel-Lindau Gene Region

We have isolated and analyzed full-length complementary DNA clones encoded by a 200-kilobase gene encompassing the D3S601 locus that resides in the von Hippel-Lindau (VHL) gene region. The deduced amino acid sequence shows 99% identity with the published sequence of the rat plasma membrane Ca++-transporting ATPase isoform 2 complemetary DNA, implying that we have cloned and positioned the human plasma membrane Ca++-transporting ATPase isoform 2 gene within the VHL critical region. The gene is expressed in VHL target tissues and should be considered a potential candidate gene for the VHL disease.