Recombinant Human INPP5E Protein, MYC/DDK-tagged

• Cat.No.: INPP5E-2396H
• Product Overview: Recombinant Human INPP5E protein, fused to MYC/DDK-tagged at C-terminus, was expressed in HEK293.

Specification

• Species: Human
• Source: HEK293
• Tag: Myc&DDK
• 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. Alternative splicing results in multiple transcript variants encoding different isoforms.
• Form: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
• Molecular Mass: 70 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method

Gene Information

• Gene Name: INPP5E inositol polyphosphate-5-phosphatase, 72 kDa [ Homo sapiens ]
• Official Symbol: INPP5E
• Synonyms: CORS1; CPD4; JBTS1; MORMS; PPI5PIV
• Gene ID: 56623
• mRNA Refseq: NM_019892
• Protein Refseq: NP_063945
• MIM: 613037
• UniProt ID: Q9NRR6