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What (who) is OCRL - definition
OCRL
PROTEIN-CODING GENE IN THE SPECIES HOMO SAPIENS
OCRL (gene); OCRL1
Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.
Oculocerebrorenal syndrome
![[[Fibroblasts]]](https://commons.wikimedia.org/wiki/Special:FilePath/NIH 3T3.jpg?width=200 "[[Fibroblasts]]")
![[[Potassium citrate]]](https://commons.wikimedia.org/wiki/Special:FilePath/Potassium citrate structure.svg?width=200 "[[Potassium citrate]]")
HUMAN DISEASE
Lowe syndrome; Lowe's Oculocerebrorenal Syndrome; Lowe Syndrome; Charles Upton Lowe; Lowe's syndrome; Oculo-cerebro-renal syndrome; Lowe’s syndrome
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss).
