Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.

@article{Hammarsund2004DisruptionOA,
  title={Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.},
  author={Marianne Hammarsund and Mikael S. Lerner and Chaoyong Zhu and Mats Merup and Monika Jansson and G{\"o}sta Gahrton and Hanneke C Kluin-Nelemans and Stefan Einhorn and Dan Grand{\'e}r and Olle Sangfelt and Martin M Corcoran},
  journal={Human molecular genetics},
  year={2004},
  volume={13 23},
  pages={2925-36}
}
Karyotypical alteration of chromosome 5 and in particular band 5q13 is a frequent finding in hairy cell leukemia (HCL). We have previously identified a number of candidate genes localized in close proximity to a constitutional inv(5)(p13.1q13.3) breakpoint in one HCL patient. These included beta-hexosaminodase HEXB, frequently mutated in the lysosomal storage disorder Sandhoff disease. We now report that the 5q13.3 breakpoint disrupts a novel evolutionary conserved alternative isoform of HEXB… CONTINUE READING