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Protein Page:
CLCN5 iso2 (human)

Overview
CLCN5 iso2 Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. Defects in CLCN5 are a cause of hypophosphatemic rickets, X-linked recessive (XLRHR). XLRHR is a renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. Defects in CLCN5 are the cause of nephrolithiasis type 2 (NPHL2); also known as Dent disease 1. NPHL2 is an X- linked recessive renal disease belonging to the 'Dent disease complex'. NPHL2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. Defects in CLCN5 are the cause of nephrolithiasis type 1 (NPHL1); also designated XRN. NPHL1 is an X-linked recessive renal disease belonging to the 'Dent disease complex'. NPHL1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. Defects in CLCN5 are the cause of low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN). LMWPHN is an X-linked renal disease belonging to the 'Dent disease complex'. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure. Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: Xp11.23-p11.22
Cellular Component: apical part of cell; endosome; endosome membrane; integral to plasma membrane; lysosomal membrane; membrane
Molecular Function: antiporter activity; chloride channel activity; chloride ion binding; voltage-gated chloride channel activity
Biological Process: excretion; transport
Disease: Dent Disease 1; Hypophosphatemic Rickets, X-linked Recessive; Nephrolithiasis, X-linked Recessive, With Renal Failure; Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Reference #:  P51795-2 (UniProtKB)
Alt. Names/Synonyms: chloride channel 5; Chloride channel protein 5; Chloride transporter ClC-5; ClC-5; CLC5; CLCK2; CLCN5; DENTS; H(+)/Cl(-) exchange transporter 5; hCIC-K2; hClC-K2; NPHL1; NPHL2; XLRH; XRN
Gene Symbols: CLCN5
Molecular weight: 90,785 Da
Basal Isoelectric point: 5.81  Predict pI for various phosphorylation states
Select Structure to View Below

CLCN5 iso2

Protein Structure Not Found.
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