Gene: EDEM3

Alternate names for this Gene: C1orf22

Gene Summary: Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.3

Description of this Gene: ER degradation enhancing alpha-mannosidase like protein 3

Type of Gene: protein-coding

rs78444298 in EDEM3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs78444298 in EDEM3 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs12126231 in EDEM3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.