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 is a member of the aquaglyceroporin subset of aquaporins, a family of small transmembrane proteins that function as water-conducting pores. AQP9 is also 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. Polymorphisms in this gene associated with HbF levels in sickle cell patients. Alternate splicing results in multiple transcript variants.

Synonyms: SSC1 , AQP-9 , T17287 , HsT17287

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
  2. 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 PubMed
Created on 2016-04-26 14:45:55, Last reviewed on 2016-04-26 14:47:40 (Show full history)


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