Identification and characterization of a novel member of the EXT gene family, EXTL2

Eur J Hum Genet. 1997 Nov-Dec;5(6):382-9.


Recently, two homologous genes, EXT1 and EXT2, with a putative tumor suppressor function have been described. Mutations in both genes are responsible for multiple exostosis syndrome (EXT), an autosomal dominant condition characterized by the presence of multiple osteochondromas, bony excrescences that sometimes undergo malignant transformation to chondrosarcoma. This family of EXT genes has been extended by the identification of an EXT-like (EXTL) gene showing a high degree of homology with the EXT genes. We report here a second EXT-like gene (EXTL2) which is homologous to the EXT and EXTL genes. EXTL2 consists of 5 exons encoding an ubiquitously expressed protein of 330 amino acids. In addition, a putative pseudogene, EXTL2P was also identified. The EXTL2 gene was assigned to chromosome 1p11-p12, whereas EXTL2P was mapped on chromosome 2q24-q31.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Northern
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics
  • Cloning, Molecular
  • DNA Primers / chemistry
  • DNA Primers / genetics
  • Exostoses, Multiple Hereditary
  • Genes, Tumor Suppressor / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Membrane Proteins*
  • Molecular Sequence Data
  • N-Acetylglucosaminyltransferases*
  • Polymerase Chain Reaction
  • Proteins / chemistry*
  • Pseudogenes / genetics
  • RNA, Messenger / analysis
  • Sequence Alignment
  • Sequence Analysis, DNA


  • DNA Primers
  • Membrane Proteins
  • Proteins
  • RNA, Messenger
  • EXTL2 protein, human
  • N-Acetylglucosaminyltransferases

Associated data

  • GENBANK/AF000416