Gene: MMP24-AS1-EDEM2

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: EDEM2

Alternate names for this Gene: C20orf31|C20orf49|bA4204.1

Gene Summary: In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: ER degradation enhancing alpha-mannosidase like protein 2

Type of Gene: protein-coding

rs2065108 in MMP24-AS1-EDEM2;EDEM2 gene and Alzheimer's Disease PMID 18449908 2009 Genome screen of late-onset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis.

rs2889874 in MMP24-AS1-EDEM2;EDEM2 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs3746428 in MMP24-AS1-EDEM2;EDEM2 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs1033797 in MMP24-AS1-EDEM2;EDEM2 gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs1033797 in MMP24-AS1-EDEM2;EDEM2 gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.