DelGEF, an RCC1‐related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness

@article{Uhlmann1999DelGEFAR,
  title={DelGEF, an RCC1‐related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness},
  author={J. Uhlmann and S. Wiemann and H. Ponstingl},
  journal={FEBS Letters},
  year={1999},
  volume={460}
}
We have cloned a human cDNA, DELGEF ( afness ocus associated putative uanine nucleotide xchange actor), 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 a… Expand
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