Gene: CERT1

Alternate names for this Gene: CERT|CERTL|COL4A3BP|GPBP|MRD34|STARD11

Gene Summary: This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q13.3

Description of this Gene: ceramide transporter 1

Type of Gene: protein-coding

Gene: POLK

Alternate names for this Gene: DINB1|DINP|POLQ

Gene Summary: This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients.

Gene is located in Chromosome: 5

Location in Chromosome : 5q13.3

Description of this Gene: DNA polymerase kappa

Type of Gene: protein-coding

rs4604177 in CERT1;POLK gene and Low density lipoprotein cholesterol measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

rs4604177 in CERT1;POLK gene and Serum total cholesterol measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.