PITPNC1


Description

The PITPNC1 (phosphatidylinositol transfer protein cytoplasmic 1) is a protein-coding gene located on chromosome 17.

PITPNC1 gene encodes a cytoplasmic phosphatidylinositol transfer protein, crucial for cell signaling and lipid metabolism. This protein facilitates the transfer of phosphatidylinositol between membrane compartments. Multiple isoforms exist, arising from alternative splicing. A pseudogene is located on chromosome 1.

Isoform 1 of PITPNC1 catalyzes the transfer of phosphatidylinositol (PI) and phosphatidic acid (PA) between membranes. It preferentially binds to PA derived from the phospholipase D signaling pathway, particularly the C16:0/16:1 and C16:1/18:1 PA species.

PITPNC1 is also known as M-RDGB-beta, MRDGBbeta, RDGB-BETA, RDGBB, RDGBB1.

Associated Diseases



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