CLCN5 Antibody (PACO63639)
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주문- SKU:
- PACO63639
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
Antibody Name: | CLCN5 Antibody (PACO63639) |
Antibody SKU: | PACO63639 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, IHC |
Recommended Dilutions: | ELISA:1:2000-1:10000, IHC:1:20-1:200 |
Species Reactivity: | Human |
Immunogen: | Recombinant Human H(+)/Cl(-) exchange transporter 5 protein (553-746AA) |
Form: | Liquid |
Storage Buffer: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 |
Purification Method: | Antigen Affinity Purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
IHC image of PACO63639 diluted at 1:100 and staining in paraffin-embedded human breast cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system. |
Background: | Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acid, fication of the endosome lumen. May play an important role in renal tubular function. |
Synonyms: | H(+)/Cl(-) exchange transporter 5 (Chloride channel protein 5) (ClC-5) (Chloride transporter ClC-5), CLCN5, CLCK2 |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Transporter; Membrane protein, integral; Transporter, ion channel; 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 |
NCBI Summary: | This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] |
UniProt Code: | P51795 |
NCBI GenInfo Identifier: | 1705908 |
NCBI Gene ID: | 1184 |
NCBI Accession: | P51795.1 |
UniProt Secondary Accession: | P51795,Q5JQD5, Q7RTN8, A1L475, B3KPN6, |
UniProt Related Accession: | P51795 |
Molecular Weight: | 746 |
NCBI Full Name: | H(+)/Cl(-) exchange transporter 5 |
NCBI Synonym Full Names: | chloride channel, voltage-sensitive 5 |
NCBI Official Symbol: | CLCN5 |
NCBI Official Synonym Symbols: | XRN; CLC5; XLRH; CLCK2; ClC-5; DENTS; NPHL1; NPHL2; hCIC-K2 |
NCBI Protein Information: | H(+)/Cl(-) exchange transporter 5; H(+)/Cl(-) exchange transporter 5; chloride transporter ClC-5; voltage-gated chloride ion channel CLCN5 |
UniProt Protein Name: | H(+)/Cl(-) exchange transporter 5 |
UniProt Synonym Protein Names: | Chloride channel protein 5; ClC-5; Chloride transporter ClC-5 |
Protein Family: | H(+)/Cl(-) exchange transporter |
UniProt Gene Name: | CLCN5 |
UniProt Entry Name: | CLCN5_HUMAN |
Antibodies |
Anti-CLCN5 Antibody (CAB5707) |
Secondary Antibody |
Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014) |
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