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Antibody detects endogenous levels of total OCRL.
The inositol polyphosphate 5-phosphatases selectively remove the phosphate from the 5-position of various phosphatidylinositols, which generate second messengers in response to extracellular signals. OCRL1 is a type II 5-phosphatase that is mutated in the oculocerebrorenal syndrome of Lowe (OCRL). OCRL is a rare X-linked disorder that is characterized in part by congenital cataracts, mental retardation, muscular hypotonia and renal tubular dysfunction. OCRL1 has a high affinity for phosphatidylinositol 4,5-bisphosphate as well as inositol 1,4,5-trisphosphate and inositol 1,3,4,5-tetrakisphosphate as substrates. OCRL1 is localized to the Golgi complex and is thought to be part of the trans-Golgi network (TGN), which suggests that OCRL1 plays a role in protein sorting and trafficking within the cell.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Inositol polyphosphate 5-phosphatase OCRL; Inositol polyphosphate 5-phosphatase OCRL-1; Lowe oculocerebrorenal syndrome protein; OCRL-1; oculocerebrorenal syndrome of Lowe; Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase
基因别名: 9530014D17Rik; BB143339; INPP5F; LOCR; NPHL2; OCRL; OCRL-1; OCRL1
UniProt ID: (Human) Q01968, (Mouse) Q6NVF0
Entrez Gene ID: (Human) 4952, (Mouse) 320634