Gene: CPAMD8

Alternate names for this Gene: ASGD8|K-CAP|VIP

Gene Summary: This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: C3 and PZP like alpha-2-macroglobulin domain containing 8

Type of Gene: protein-coding

rs4808540 in CPAMD8 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2227359 in CPAMD8 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2227359 in CPAMD8 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2227359 in CPAMD8 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2227368 in CPAMD8 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.