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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Библиографические подробности
Главные авторы: Zhang, X, Jefferson, A B, Auethavekiat, V, Majerus, P W
Формат: Artigo
Язык:Inglês
Опубликовано: 1995
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC41805/
https://ncbi.nlm.nih.gov/pubmed/7761412
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