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Aquaporin-1 (AQP1), also known as Channel-forming integral membrane protein (CHIP), is the first member of the aquaporin water channel family. It plays a role in the transmembrane water transport, especially in kidneys, red blood cells, central nervous system and some epithelial surfaces. Its activity can be blocked by mercurial compounds. AQP1 is associated with so-called Colton blood group antigens. Rare individuals, who do not express these antigens and whose red cells exhibit low osmotic water permeabilities, contain deleterious homozygous germ-line mutations in the AQP1 gene; however, this condition is not accompanied by visible clinical consequence.
Gene Name: | aquaporin 1 (Colton blood group) |
Family/Subfamily: | Transporter , Aquaporin |
Synonyms: | AQP1, Aquaporin-1, AQP-1, AQP-CHIP, Aquaporin 1, Aquaporin-CHIP, CHIP28, Colton blood group, Urine water channel, CO |
Target Sequences: | NM_198098 NP_932766.1 P29972 |
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