Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene

Hum Genet. 2000 Dec;107(6):577-81. doi: 10.1007/s004390000431.

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.

Publication types

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

MeSH terms

  • Carrier Proteins*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12*
  • DNA Mutational Analysis
  • Humans
  • Membrane Proteins / metabolism
  • Noonan Syndrome / genetics*
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • Receptors, Notch
  • Signal Transduction

Substances

  • Carrier Proteins
  • Membrane Proteins
  • Proteins
  • Receptors, Notch
  • deltex protein, vertebrate