RecName: Full=Inositol polyphosphate 5-phosphatase OCRL; AltName: Full - Protein

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Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes. [Biomolecules. 2023]
Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
Lee JJ, Ramadesikan S, Black AF, Christoffer C, Pacheco AFP, Subramanian S, Hanna CB, Barth G, Stauffacher CV, Kihara D, et al. Biomolecules. 2023 Mar 29; 13(4). Epub 2023 Mar 29.
Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane. [J Biol Chem. 2023]
Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane.
Chen H, Lu C, Tan Y, Weber-Boyvat M, Zheng J, Xu M, Xiao J, Liu S, Tang Z, Lai C, et al. J Biol Chem. 2023 Jun; 299(6):104812. Epub 2023 May 11.
Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations. [Genet Res (Camb). 2022]
Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
Zhang L, Wang S, Mao R, Fu H, Wang J, Shen H, Lu Z, Chen J, Bao Y, Feng C, et al. Genet Res (Camb). 2022; 2022:1473260. Epub 2022 Jul 19.

RefSeq genomic sequence
See the genomic reference sequence for the OCRL gene (NG_008638.1).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the OCRL gene.

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Dryad Digital Repository [Dryad Digital Repository]
Dryad Digital Repository
Q01968 [Domain Mapping of Disease Mut...]
Q01968
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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RecName: Full=Inositol polyphosphate 5-phosphatase OCRL; AltName: Full=Inositol ...
RecName: Full=Inositol polyphosphate 5-phosphatase OCRL; AltName: Full=Inositol polyphosphate 5-phosphatase OCRL-1; Short=OCRL-1; AltName: Full=Lowe oculocerebrorenal syndrome protein; AltName: Full=Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase
gi|67477390|sp|Q01968.3|OCRL_HUMAN

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