AQP7

Chr 9AR

aquaporin 7

Also known as: AQP7L, AQPap, GLYCQTL

NCBI Gene: 364 ENSG00000165269 UniProt: O14520 OMIM: 602974

This protein functions as a transmembrane channel that transports water, glycerol, and urea across cell membranes, playing a critical role in energy homeostasis by facilitating glycerol efflux from adipocytes and glycerol reabsorption in the kidney. Mutations cause autosomal recessive inheritance of altered glycerol metabolism, though specific clinical phenotypes beyond quantitative trait effects on glycerol levels have not been well-characterized. The gene shows high tolerance to loss-of-function variants (LOEUF 1.95), suggesting that complete loss of function may be required for clinical manifestations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…