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

Cancer Res. 1993 Feb 15;53(4):861-7.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Calcium-Transporting ATPases / genetics*
  • Chromosome Mapping / methods*
  • Chromosomes, Human, Pair 3*
  • Cosmids / genetics
  • Humans
  • Molecular Sequence Data
  • Syndrome
  • Yeasts / genetics
  • von Hippel-Lindau Disease / genetics*

Substances

  • Calcium-Transporting ATPases

Associated data

  • GENBANK/L00620
  • GENBANK/L20977
  • GENBANK/L33702
  • GENBANK/L33703
  • GENBANK/L33704
  • GENBANK/L33705
  • GENBANK/L33706
  • GENBANK/L33707
  • GENBANK/L33708
  • GENBANK/L33709