title: Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene.
abstract: The human Deltex (DTX1) gene encodes a cytoplasmic protein that functions as a positive regulator of the Notch signaling pathway. We have determined the genomic organization and map location of the human gene. DTX1 encodes a 2.5-kb cDNA that is composed of nine exons. The DTX1 gene maps to chromosomal region 12q24 in the vicinity of the Noonan syndrome critical region. We have fine-mapped DTX1 to within this critical region and evaluate it as a candidate gene for this disorder.
authors.affiliation: Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA.
authors.forename: L
authors.initials: L
authors.lastname: Lee
authors.forename: J
authors.initials: J
authors.lastname: Dowhanick-Morrissette
authors.forename: A
authors.initials: A
authors.lastname: Katz
authors.forename: L
authors.initials: L
authors.lastname: Jukofsky
authors.forename: I D
authors.initials: ID
authors.lastname: Krantz
mesh_terms: D002352:Carrier Proteins; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D004252:DNA Mutational Analysis; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism; D009634:Noonan Syndrome / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D051880:Receptors, Notch; D015398:Signal Transduction
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D011506:Proteins; D051880:Receptors, Notch; C409218:deltex protein, vertebrate