The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex.

@article{OlivosGlander1995TheOS,
  title={The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex.},
  author={Isabelle Olivos-Glander and Pasi Antero J{\"a}nne and Robert L Nussbaum},
  journal={American journal of human genetics},
  year={1995},
  volume={57 4},
  pages={817-23}
}
The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder affecting the lens, kidney, and CNS. The predicted amino acid sequence of the OCRL gene, OCRL-1, was used to develop antibodies against the OCRL-1 protein. Western blot analysis using affinity-purified serum against the amino terminus of the OCRL-1 gene product (ocrl-1) demonstrates a single protein of 105 kD in fibroblasts of a normal individual that is absent in fibroblasts of an OCRL patient who lacks OCRL-1 transcript… CONTINUE READING

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