AQP2 ditemukan pada membran sel apikal sel utama duktus koligentes ginjal dan vesikel intraseluler yang terletak di seluruh sel.
Regulasi
suntingAkuaporin 2 merupakan satu-satunya akuaporin yang diregulasi oleh vasopresin.[4] Fungsi dasar akuaporin 2 adalah untuk mereabsorbsi air dari urin ketika air tersebut dibuang dari darah oleh ginjal. Akuaporin 2 ditemukan pada sel epitel ginjal dan biasanya dorman di dalam membran vesikel intraseluler. Ketika dibutuhkan, vasopresin berikatan dengan reseptor vasopresin permukaan sel yang mengaktifkan jalur pensinyalan dan menyebabkan vesikel yang memuat akuaporin 2 untuk berfusi dengan membran plasma sehingga akuaporin 2 dapat digunakan oleh sel.[5]
Akuaporin ini diregulasi dengan dua cara oleh hormon peptida vasopresin, yaitu:
- Regulasi jangka pendek (menit) melalui lalu lintas vesikel AQP2 ke wilayah apikal yang kemudian berfusi dengan membran plasma apikal.
- Regulasi jangka panjang (hari) melalui peningkatan ekspresi gen AQP2.
Akuaporin ini juga diregulasi oleh asupan makanan. Berpuasa mengurangi ekspresi akuaporin ini yang tak bergantung vasopresin.
Signifikansi klinis
suntingMutasi saluran ini diasosiasikan dengan diabetes insipidus nefrogenik, yang dapat berupa dominan atau resesif autosomal. Mutasi pada reseptor vasopresin menyebabkan fenotipe terpaut-X serupa.
Litium, sering digunakan untuk mengobati gangguan bipolar, dapat menyebabkan diabetes insipidus perolehan (ditandai dengan ekskresi urin encer bervolume besar) dengan menurunkan ekspresi gen AQP2.
Ekspresi gen AQP2 meningkat dalam kondisi yang berkaitan dengan retensi air, seperti kehamilan dan gagal jantung kongestif.
Lihat juga
suntingReferensi
sunting- ^ a b c GRCh38: Ensembl release 89: ENSG00000167580 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Dibas AI, Mia AJ, Yorio T (Desember 1998). "Aquaporins (water channels): role in vasopressin-activated water transport". Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine. 219 (3): 183–99. doi:10.3181/00379727-219-44332. PMID 9824541.
- ^ Lodish, Harvey; Berk, Arnold; Kaiser, Chris A.; Krieger, Monty; Scott, Matthew P.; Bretscher, Anthony; Ploegh, Hidde; Matsudaira, Paul (2008). Molecular Cell Biology (Edisi 6th). New York: Freeman. hlm. 445. ISBN 978-0-7167-7601-7.
Bacaan lanjutan
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- Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA (April 1994). "Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine". Science. 264 (5155): 92–5. doi:10.1126/science.8140421. PMID 8140421.
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- Mulders SM, Knoers NV, Van Lieburg AF, Monnens LA, Leumann E, Wühl E, Schober E, Rijss JP, Van Os CH, Deen PM (February 1997). "New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels". Journal of the American Society of Nephrology. 8 (2): 242–8. PMID 9048343.
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Pranala luar
sunting- GeneReviews/NCBI/NIH/UW entri Diabetes Insipidus Nefrogenik
- MeSH Aquaporin+2
- Lokasi genom AQP2 manusia dan halaman rincian gen AQP2 dalam UCSC Genome Browser.
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