PITPNM3
Function
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
Tissue Specificity
Detected in brain and spleen, and at low levels in ovary.
Cellular localization
- Endomembrane system
- Peripheral membrane protein
Alternative names
NIR1, PITPNM3, Membrane-associated phosphatidylinositol transfer protein 3, Pyk2 N-terminal domain-interacting receptor 1, PITPnm 3, NIR-1