AGER Chromosome 6
Advanced glycosylation end-product specific receptor
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What This Gene Does
The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
Gene Info
Gene Group
"C2-set domain containing|Scavenger receptors"
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000204305
Associated Conditions (3)
Ovarian serous cystadenocarcinoma
COPD
severe early onset
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138178120 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140930365 | Health Risk | Conflicting classifications of pathogenicity | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS3134940 | Health Risk | Likely risk allele | COPD, severe early onset, COPD |