Mouse inositol polyphosphate-5-phosphatase, 72 kDa ELISA Kit | INPP5E elisa kit
Mouse 72 kDa inositol polyphosphate 5-phosphatase, INPP5E ELISA Kit
NCBI and Uniprot Product Information
Uniprot Description
INPP5E: Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates. Defects in INPP5E are the cause of Joubert syndrome type 1 (JBTS1). A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Defects in INPP5E are the cause of mental retardation- truncal obesity-retinal dystrophy-micropenis (MORMS). An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type IV family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Carbohydrate Metabolism - inositol phosphate; Phosphatase (non-protein); EC 3.1.3.36
Cellular Component: Golgi membrane; Golgi apparatus; cell projection; cytoskeleton; membrane; cytoplasm; plasma membrane; axoneme; cilium
Molecular Function: hydrolase activity; phosphoinositide 5-phosphatase activity; inositol-polyphosphate 5-phosphatase activity
Biological Process: dephosphorylation; inositol phosphate dephosphorylation; phosphoinositide dephosphorylation; lipid metabolic process; phosphatidylinositol metabolic process
Research Articles on INPP5E
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Product Notes
The Mouse INPP5E inpp5e (Catalog #AAA9342384) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9342384 ELISA Kit recognizes Mouse INPP5E. It is sometimes possible for the material contained within the vial of "inositol polyphosphate-5-phosphatase, 72 kDa, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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