ADIPOQ Chromosome 3
Adiponectin, C1Q and collagen domain containing
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What This Gene Does
This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
C1q and TNF related
Locus Type
gene with protein product
Location
3q27.3
Ensembl
ENSG00000181092
Associated Conditions (1)
Adiponectin deficiency
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121917815 | Health Risk | Pathogenic | Adiponectin deficiency, Adiponectin deficiency |
| RS777532127 | Health Risk | Pathogenic | Adiponectin deficiency, Adiponectin deficiency |
| RS876661321 | Health Risk | risk factor | Adiponectin deficiency, Adiponectin deficiency |