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Identification and characterization of a novel member of the EXT gene family, EXTL2
- Source :
- European journal of human genetics, 5(6), 382-389. Nature Publishing Group, Europe PubMed Central, European journal of human genetics
- Publication Year :
- 1998
-
Abstract
- 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.
- Subjects :
- musculoskeletal diseases
Base Sequence
Molecular Sequence Data
Chromosome Mapping
Membrane Proteins
Proteins
Sequence Analysis, DNA
Blotting, Northern
N-Acetylglucosaminyltransferases
Polymerase Chain Reaction
Chromosomes, Human, Pair 2
Genetics
Humans
Genes, Tumor Suppressor
Amino Acid Sequence
RNA, Messenger
Cloning, Molecular
human activities
Sequence Alignment
Genetics (clinical)
Exostoses, Multiple Hereditary
In Situ Hybridization, Fluorescence
Pseudogenes
DNA Primers
Subjects
Details
- ISSN :
- 10184813
- Volume :
- 5
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- European journal of human genetics : EJHG
- Accession number :
- edsair.doi.dedup.....f68154b67358401fe6d0092b972668ab