Human inositol polyphosphate-5-phosphatase, 72 kDa ELISA Kit | INPP5E elisa kit
Human 72 kDa inositol polyphosphate 5-phosphatase, INPP5E ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly.[provided by RefSeq, Feb 2011]
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: Phosphatase (non-protein); Carbohydrate Metabolism - inositol phosphate; EC 3.1.3.36
Chromosomal Location of Human Ortholog: 9q34.3
Cellular Component: ruffle; cytoskeleton; plasma membrane; axoneme; cytosol
Molecular Function: phosphoinositide 5-phosphatase activity; inositol-polyphosphate 5-phosphatase activity
Biological Process: phospholipid metabolic process; inositol phosphate dephosphorylation; organelle organization and biogenesis; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation
Disease: Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome; Joubert Syndrome 1
Research Articles on INPP5E
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Product Notes
The Human INPP5E inpp5e (Catalog #AAA9323227) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9323227 ELISA Kit recognizes Human 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
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