GeneID: 73
Names
| Common Name: | AQP9 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 15 (NC_000015.10) | Locus: | NG_011975.2 (AQP9) |
| HUGO Symbol: | AQP9 | Full Name: | aquaporin 9 |
| Exons: | 6 | Introns: | 5 |
Description:
AQP9 belongs to a family of water-selective membrane channels. It is a member of the aquaglyceroporin subset of aquaporins, a family of small transmembrane proteins that function as water-conducting pores. It is permeable to a wide variety of noncharged solutes, such as lactate, β-hydroxybutyrate, glycerol, carbamides, purines, pyrimidines, mannitol, sorbitol and urea, but impermeable to cyclic sugars. In the liver, AQP9 facilitates the uptake of glycerol from the bloodstream for the process of gluconeogenesis and participates in the elimination of urea. It may play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Genetic variation in this gene associated with a change in Hb F levels and Hb F response to hydroxyurea treatment in sickle cell disease.
Synonyms: SSC1 , AQP-9 , T17287 , HsT17287
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Tsukaguchi H, Weremowicz S, Morton CC, Hediger MA, Functional and molecular characterization of the human neutral solute channel aquaporin-9., Am. J. Physiol. , 277(5), F685-96, 1999
- Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008