GenCLCN5 kod ljudi, nalazi se na hromosomu X. Kodirahloridni kanal Cl-/H+ izmjenjivač ClC-5. ClC-5 koji se uglavnom eksprimira u bubregu, posebno u proksimalnim tubulama, gdje učestvuje u preuzimanju albumina i proteina niske molekulse težine, što je jedan od glavnih fiziološka uloga ćelija proksimalnih tubula. Mutacije u genu CLCN5 uzrokuju X-vezano recesivnu nefropatiju pod nazivom Dentova bolest (Dentova bolest 1 MIM#300009) okarakterizirana prekomjernim gubitkom proteina niske molekulske težine i kalcijem u urinu (hiperkalciurija), nefrokalcinoza (prisustvo agregata kalcij-fosfata u tubulskom lumenu i/ili intersticiju) i nefrolitijaza]ma urinarnom traktom. (kamen u bubregu).
Otkriveno je pet različitih CLCN5genskih transkripata, od kojih dvije (varijante transkripta 3 [NM_000084.5] i 4 [NM_001282163.1]) kodiraju kanonski 746-aminokiselinski protein, dvije (varijante transkripta 1 [NM_001127899.3] i 2 [NM_001127898.3]) NH2-terminalni prošireni protein od 816 aminokiselina[9] a jedna ne kodira nijedan protein (varijanta transkripta 5, [NM_001272102.2]).
Pet prim neprevedena regija (5'UTR) CLCN5-a je složena struktura i nije u potpunosti razjašnjena. Predviđeno je da će dva jaka i jedan slabi promotor biti prisutni u genu CLCN5.[10][11] Several different 5’ alternatively used exons have been recognized in the human kidney.[9][10][11][12] Tri promotora pokreću sa različitim stepenom efikasnosti 11 različitih iRNK, pri čemu transkripcija počinje sa najmanje tri različita početna mesta.[10]
Ćelije proksimalnih tubula (PTC) su glavno mjesto ekspresije ClC-5. Pomoću procesa receptorom posredovane endocitoze, preuzimaju albumin i proteine niske molekulske težine koji slobodno prolaze kroz glomerulski filter. ClC-5 se nalazi u ranim endosomima PTC-a, gdje se kolokalizira s elektrogenom vakuolskom H+‐ATPazom (V‐ATPaze). ClC-5 u ovom odjeljku doprinosi održavanju intraendosomske kiselosti pH. Zakiseljavanje okoline je neophodno za disocijaciju liganda od njegovog receptora. Receptor se zatim reciklira u apikalnu membranu, dok se ligand transportuje do kasnog endosoma i lizosoma, gdje se razgrađuje. ClC-5 podržava efikasnu acidifikaciju endosoma, bilo obezbjeđivanjem Cl− provodljivosti kako bi se uravnotežila akumulacija pozitivno nabijenog H+ upumpanog V-ATPazom, ili direktnim zakiseljavanjem endosoma u paralelno sa V-ATPazom.[20]
Eksperimentalni dokazi potvrđuju da endosomna koncentracija Cl−, koju ClC-5 podiže u zamjenu za protone akumulirane od strane V-ATPaze, može igrati ulogu u endocitozama, neovisno o endosomnoj acidifikaciji, ukazujući tako na drugi mogući mehanizam kojim disfunkcija ClC-5 može poremetiti endocitozu.[21]
ClC-5 se takođe nalazi na površini ćelije PTC-a, gdje vjerovatno ima ulogu u formiranju/funkcionisanju endocitnog kompleksa koji također uključuje megalin i kubilin/amnionske receptore , natrij-vodik antiporter 3 (NHE3) i V-ATPaza.[22][23] Pokazano je da se na C-terminalu ClC-5 vezuje za aktin-depolimerizirajući protein kofilin. Kada se formira endosom u nastajanju, regrutovanje kofilina od strane ClC-5 je preduslov za lokalizovano rastvaranje aktinskog citoskeleta, čime se dozvoljava endosomu da prođe u citoplazmu. Moguće je da na površini ćelije veliki unutarćelijski C-kraj ClC-5 ima ključnu funkciju u posredovanju u sklapanju, stabilizaciji i rastavljanju endocitnog kompleksa, putem interakcija protein-protein. Stoga, ClC-5 može ostvariti dvije uloge u endocitozi posredovanoj receptorima: 1) vezikulska acidifikacija i reciklaža receptora; 2) učešće u neselektivnom unosu proteina male molekulske težine bez megalina-kubilina-amniona na apikalnoj membrani.
Klinička dijagnoza Dentove bolesti može se potvrditi molekulskim genetičkim testiranjem koje može otkriti mutacije u specifičnim genima za koje je poznato da uzrokuju Dentovu bolest. Međutim, oko 20-25% pacijenata sa Dentovom bolešću ostaje genetički neriješeno.
^Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV, Craig IW (novembar 1994). "Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)". Human Molecular Genetics. 3 (11): 2053–9. PMID7874126.
^Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW (oktobar 1995). "Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)". Genomics. 29 (3): 598–606. doi:10.1006/geno.1995.9960. hdl:11858/00-001M-0000-0012-CC06-6. PMID8575751.
^ abLudwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B (2003). "Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant". Kidney & Blood Pressure Research. 26 (3): 176–84. doi:10.1159/000071883. PMID12886045. S2CID41532860.
^ abcHayama, Atsushi; Uchida, Shinichi; Sasaki, Sei; Marumo, Fumiaki (2000). "Isolation and characterization of the human CLC-5 chloride channel gene promoter". Gene (jezik: engleski). 261 (2): 355–364. doi:10.1016/S0378-1119(00)00493-5. PMID11167024.
^Luyckx VA, Goda FO, Mount DB, Nishio T, Hall A, Hebert SC, et al. (novembar 1998). "Intrarenal and subcellular localization of rat CLC5". The American Journal of Physiology. 275 (5): F761-9. doi:10.1152/ajprenal.1998.275.5.F761. PMID9815133.
^Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC (mart 1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". Journal of Molecular and Cellular Cardiology. 31 (3): 657–66. doi:10.1006/jmcc.1998.0901. PMID10198195.
^Ludwig M, Doroszewicz J, Seyberth HW, Bökenkamp A, Balluch B, Nuutinen M, et al. (juli 2005). "Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization". Human Genetics. 117 (2–3): 228–37. doi:10.1007/s00439-005-1303-2. PMID15895257. S2CID34623611.
Igarashi T, Hayakawa H, Shiraga H, Kawato H, Yan K, Kawaguchi H, et al. (1995). "Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom?". Nephron. 69 (3): 242–7. doi:10.1159/000188464. PMID7753256.
Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW (oktobar 1995). "Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)". Genomics. 29 (3): 598–606. doi:10.1006/geno.1995.9960. hdl:11858/00-001M-0000-0012-CC06-6. PMID8575751.
Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A (juni 1997). "A second family with XLRH displays the mutation S244L in the CLCN5 gene". Human Genetics. 99 (6): 781–4. doi:10.1007/s004390050448. PMID9187673. S2CID1930953.
Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC (mart 1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". Journal of Molecular and Cellular Cardiology. 31 (3): 657–66. doi:10.1006/jmcc.1998.0901. PMID10198195.
Ludwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B (2004). "Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant". Kidney & Blood Pressure Research. 26 (3): 176–84. doi:10.1159/000071883. PMID12886045. S2CID41532860.
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