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.
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.
Latif
F
F
Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center, Maryland 21702-1201.
Duh
F M
FM
Gnarra
J
J
Tory
K
K
Kuzmin
I
I
Yao
M
M
Stackhouse
T
T
Modi
W
W
Geil
L
L
Schmidt
L
L
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*
D000252:Calcium-Transporting ATPases