title: von Hippel-Lindau syndrome: cloning and identification of the plasma membrane Ca(++)-transporting ATPase isoform 2 gene that resides in the von Hippel-Lindau gene region.
abstract: 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 complementary 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.
authors.affiliation: Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center, Maryland 21702-1201.
authors.forename: F
authors.initials: F
authors.lastname: Latif
authors.forename: F M
authors.initials: FM
authors.lastname: Duh
authors.forename: J
authors.initials: J
authors.lastname: Gnarra
authors.forename: K
authors.initials: K
authors.lastname: Tory
authors.forename: I
authors.initials: I
authors.lastname: Kuzmin
authors.forename: M
authors.initials: M
authors.lastname: Yao
authors.forename: T
authors.initials: T
authors.lastname: Stackhouse
authors.forename: W
authors.initials: W
authors.lastname: Modi
authors.forename: L
authors.initials: L
authors.lastname: Geil
authors.forename: L
authors.initials: L
authors.lastname: Schmidt
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D002893:Chromosomes, Human, Pair 3; D003360:Cosmids / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D013577:Syndrome; D015003:Yeasts / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D000252:Calcium-Transporting ATPases