Corpus ID: 11361098

DelGEF , an RCC 1-related protein encoded by a gene on chromosome 11 p 14 critical for two forms of hereditary deafness 1

@inproceedings{Wiemannb1999DelGEFA,
  title={DelGEF , an RCC 1-related protein encoded by a gene on chromosome 11 p 14 critical for two forms of hereditary deafness 1},
  author={Stefan Wiemannb and Herwig Ponstingla},
  year={1999}
}
We have cloned a human cDNA, DELGEF (deafness locus associated putative guanine nucleotide exchange factor), derived from a 225 kb genomic sequence of chromosome 11p14, critical for the Usher 1C syndrome and for DFNB18, a locus for non-syndromic sensorineural deafness. The amino acid sequence of the protein hDelGEF1 is homologous to the nucleotide exchange factor RCC1 for the small GTPase Ran. hDelGEF2 is derived from the same DELGEF gene by alternative splicing. In addition, we have identified… Expand
1 Citations

Figures and Tables from this paper