background:
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.
Involvement in disease:
Defects in PITPNM3 are the cause of cone-rod dystrophy type 5 (CORD5) . 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.
Function:
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions.
Subunit:
Interacts with PTK2B via its SLCterminus.
Subcellular Location:
Endomembrane system; Peripheral membrane protein
Tissue Specificity:
Detected in brain and spleen, and at low levels in ovary.
DISEASE:
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.
Similarity:
Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
Contains 1 DDHD domain.
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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