Rabbit anti-Human, Rat CLC5 Polyclonal Antibody | anti-CLCN5 antibody

CLC5 (Clcn5, Chloride Channel)

Cat. Num. AAA615951

• Gene Names: CLCN5; XRN; CLC5; XLRH; CLCK2; DENTS; NPHL1; NPHL2; hCIC-K2; hClC-K2
• Reactivity: Human, Rat
• Applications: ELISA, Western Blot
• Purity: Affinity Purified; Purified by immunoaffinity chromatography.
• Synonyms: CLC5; Polyclonal Antibody; CLC5 (Clcn5; Chloride Channel); Anti -CLC5 (Clcn5; anti-CLCN5 antibody

• Host: Rabbit
• Reactivity: Human, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes rat CLC5. No significant sequence homology is detected with other CLCs or other proteins. Sequence Homology
• Purity/Purification: Affinity Purified; Purified by immunoaffinity chromatography.
• Form/Format: Supplied as a liquid in PBS, 0.1% BSA.

• Applicable Applications for anti-CLCN5 antibody: ELISA (EL/EIA), Western Blot (WB)
• Application Notes: Dilution: ELISA: 0.5-1ug/ml using the control peptide to coat plates at 1ug/ml.; Western Blot: 1-10ug/ml using ECL. Detects a protein of ~80kD in kidney.
• Immunogen: Synthetic peptide corresponding to 13aa from the C-terminus of rat CLC-5 (KLH).
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Related Product Information for anti-CLCN5 antibody

Chloride is a critical component of all living cells. Voltage-gated chloride channels regulate cellular traffic of chloride ion. The chloride channels (CIC or CLC) performs several functions including the regulation of cell volume, membrane potential stabilization, signal transduction, and transepithelial transport. Mutations in CIC genes have been linked with several human diseases including myotonias (Thomsen's disease), cystic fibrosis, Bartters syndrome type III, Dent's disease, and X-linked recessive nephrolithiasis. In mammals, CLC proteins form a superfamily of at least 9 different genes (CLC1-7 also known as CLCN1-7 and CLK1-2 or CLCKa and CLCKb). Additional forms of these proteins are obtained by alternative splicing. All CLC proteins (~700-1000 aa) are predicted to contain 10 (possibly 12) transmembrane domains.Except CLC-1 and CLC-K1/K2 that are specific for kidney, most other CLC are widely distributed in various tissues. Rat CLC-5 is 746 aa membrane protein (human CLC-5 746) (1). CLC-5 is abundant in kidney moderate levels are found in the brain, lung, and liver. Mutations or deletions in CLC-5 have been linked with Dent's diseases (excessive urinary calcium, urinary low mol wt proteinuria, and calcium kidney stone), and four related X-linked syndromes of hypercalciuric nephrolithiasis.

Product Categories/Family for anti-CLCN5 antibody

Antibodies; Abs to Ion Channel

NCBI and Uniprot Product Information

• NCBI GI #: 120660212
• NCBI GeneID: 1184
• UniProt Accession #: P51795; Q5JQD5; A1L475; Q7RTN8
• Molecular Weight: 83,147 Da
• NCBI Official Full Name: CLCN5 protein
• NCBI Official Synonym Full Names: chloride channel 5
• NCBI Official Symbol: CLCN5
• NCBI Official Synonym Symbols: XRN; CLC5; XLRH; CLCK2; DENTS; NPHL1; NPHL2; hCIC-K2; hClC-K2
• NCBI Protein Information: H(+)/Cl(-) exchange transporter 5; H(+)/Cl(-) exchange transporter 5; clC-5; OTTHUMP00000023279; OTTHUMP00000023280; OTTHUMP00000023281; OTTHUMP00000023282; chloride channel protein 5; chloride transporter ClC-5; nephrolithiasis 1 (X-linked)
• UniProt Protein Name: H(+)/Cl(-) exchange transporter 5
• Protein Family: H(+)/Cl(-) exchange transporter
• UniProt Gene Name: CLCN5
• UniProt Synonym Gene Names: CLCK2
• UniProt Entry Name: CLCN5_HUMAN

NCBI Description

This gene encodes a member of the ClC family of chloride ion channels and ion transporters. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Uniprot Description

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.

Protein type: Transporter; Transporter, ion channel; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: Xp11.23-p11.22

Cellular Component: Golgi membrane; membrane; integral to plasma membrane; lysosomal membrane; apical part of cell; endosome membrane

Molecular Function: chloride channel activity; voltage-gated chloride channel activity; ATP binding; antiporter activity

Biological Process: transport; endocytosis; excretion; transmembrane transport

Disease: Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis; Nephrolithiasis, X-linked Recessive, With Renal Failure; Dent Disease 1; Hypophosphatemic Rickets, X-linked Recessive