Gene: PITPNC1

Alternate names for this Gene: M-RDGB-beta|MRDGBbeta|RDGB-BETA|RDGBB|RDGBB1

Gene Summary: This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.2

Description of this Gene: phosphatidylinositol transfer protein cytoplasmic 1

Type of Gene: protein-coding

rs7224314 in PITPNC1 gene and Asthma PMID 25918132 2015 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.

rs2706702 in PITPNC1 gene and Blood urea nitrogen measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs8866 in PITPNC1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.