AQP1 Chromosome 7
Aquaporin 1 (Colton blood group)
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What This Gene Does
This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"Aquaporins|Blood group antigens"
Locus Type
gene with protein product
Location
7p14.3
Ensembl
ENSG00000240583
Associated Conditions (1)
Colton-null phenotype
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894004 | Health Risk | Pathogenic | Colton-null phenotype, Colton-null phenotype |