機能Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.
組織特異性Detected in brain and spleen, and at low levels in ovary.
関連疾患Defects in PITPNM3 are the cause of cone-rod dystrophy type 5 (CORD5) [MIM:600977]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are 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.
配列類似性Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily. Contains 1 DDHD domain.