Function
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions.
Biological Context
Subcellular Location: Endomembrane system (Peripheral membrane protein)
Tissue Specificity: Detected in brain and spleen, and at low levels in ovary
Disease Association: Cone-rod dystrophy 5 (CORD5) : An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Membrane-associated phosphatidylinositol transfer protein 3 (PITPNM3), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 387-597aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 30.8kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
