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The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.

Lowe syndrome, also known as oculocerebrorenal syndrome, is caused by mutations in the X chromosome-encoded OCRL gene. The OCRL protein is 51% identical to inositol polyphosphate 5-phosphatase II (5-phosphatase II) from human platelets over a span of 744 aa, suggesting that OCRL may be a similar enz...

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Publicado no:Proc Natl Acad Sci U S A
Principais autores: Zhang, X, Jefferson, A B, Auethavekiat, V, Majerus, P W
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC41805/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7761412/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.11.4853
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