|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for SLC26A4(NM_000441.1) Search again
Product ID:
HQP012992
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
DFNB4, EVA, PDS, TDH2B
Gene Description:
solute carrier family 26 member 4
Target Gene Accession:
NM_000441.1(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
|
|
| A | B |
|
Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
|
Summary
Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq].
Gene References into function
- Sequence analysis of the PDS gene performed with DNA from Pendred's syndrome revealed the presence of a deletion of thymidine 279 in exon 3, a point mutation that results in a frameshift and a premature stop codon at codon 96 in the pendrin molecule.
- Detected five new mutations (X871M, T132I, IVS1-2A>G, Y556H and 406del5).
- Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. (SLC26A7).(SLC26A8).(SLC26A9) three entries
- protein mislocalization and loss of iodide efflux in mutations: thyroid dysfunction in Pendred syndrome. loss of pendrin iodide transport for all mislocalizing mutations. variable thyroid dysfunction in affected subjects.
- Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis.
- work suggests that the pendrin gene should be considered a new susceptibility gene to autoimmune thyroid diseases
- Homozygous missense mutation leading to the amino acid substitution S133T was detected in a family of Turkish origin. V138F is a founder mutation in our cohort of German families with Pendred's syndrome.
- pendrin has a role in apical iodide efflux
- pendrin is responsible for the iodide efflux in thyroid cells where intracellular iodide concentration is high and that the general function of pendrin in other tissues is to transport chloride through exchange with other anions.
- Mutations of SLC26A4 is associated with Pendred's syndrome
- Pendrin is a slow-folding protein with a propensity to form aggregates when overexpressed. Thus, we describe a system for the reversible induction of ER stress that is based entirely on the heterologous overexpression of GFP-pendrin.
- SLC26A4 mutations were found in 22 of the 25 probands with enlarged vestibular aqueduct or Mondini's dysplasia
- SLC26A4-induced chloride transport is electroneutral when expressed in human cellular systems.
- pendrin and thyroglobulin are downstream targets in vivo of TTF-1, whose action is a prime factor in controlling thyroid differentiation in vivo
- SLC26A4 could be the second most frequent gene implicated in nonsyndromic deafness after GJB2
- In a population of pediatric patients with an enlarged vestibular aqueduct and hearing loss, SLC26A4 mutations are a contributor to the phenotype
- 15 patients from 13 unrelated Chinese families with deafness and enlarged vestibular aqueduct were analyzed for SLC26A4; the SLC26A4 mutation spectrum in the Chinese was different from other reported populations
- A large percentage of patients with enlarged vestibular aqueduct lack mutations in the SLC26A4 coding region in one or both alleles.
- variability in the degree of hearing loss is seen across genotypes implicating other genetic and/or environmental factors in the pathogenesis of Pendred syndrome, non-syndromic enlarged vestibular aqueduct, and Mondini dysplasia
- Biallelic mutations in the SLC26A4 gene in 6 of 7 probands with Pendred syndrome in Taiwan, including a novel missense mutation.
- For the Chinese mutation spectrum of SLC26A4 gene, IVS 7-2A>G mutation was the most common form accounting for 57.63% (102/177) of all the mutant alleles.
- novel 11 bp duplication was found in a family with Pendred syndrome, showing a high intrafamilial phenotypic variability
- no apparent correlation found between phenotypes and genotypes in hearing loss patients
- The identification of these two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome in Thai populations.
- The mutant carrier rate for SLC26A4 was 15.2%, including 6.23% single mutant carriers
- Mutations of SLC26A4 gene are one of the factors, which are at the base of congenital hearing losses [review]
- SLC26A4 gene mutation is associated with Pendred syndrome and DFNB4 hearing loss
- The processing of pendrin mutant protein is determined by mutant specific mechanisms, and that a mutant specific method would be required to rescue the conformational defects of each folding mutant.
- Pendrin-mediated bicarbonate ion secretion in the renal tubule and anion transport in the endolymph may be regulated transcriptionally by systemic pH and aldosterone.
- Screening revealed that in Japanese, mutation in SLC26A4 is the major causes of hearing loss.
- Pendrin induced expression of MUC5AC, a major product of mucus in asthma and COPD, in airway epithelial cells
- A novel c.1458_1459insT SLC26A4 mutation was detected in Israel deaf with vestibular aqueduct abnormalities.
- Our results suggest that GJB2 and SLC26A4 mutations together make up a major cause of congenital hearing loss in the Korean population
- pendrin regulates airway surface liquid thickness and may be an important contributor to asthma exacerbations induced by viral infections or allergens
- 408 subjects with sensorineural hearing loss (12.5%) carried at least one c.919-2A>G allele, with 158 (4.8%) homozygotes and 250 (7.6%) heterozygotes
- potential role of pendrin in mediating apical iodide efflux into the lumen of thyroid follicles, and functional role in the kidney and the inner ear
- functionally characterized 10 missense mutations within the SLC26A4 ORF, and consistently found that on the protein level, an addition or omission of a proline or a charged amino acid in the SLC26A4 sequence is detrimental to its function
- Data show that GJB2 (23/135) and SLC26A4 are the two most commonly mutated genes causing deafness in Inner MOngolia.
- Functional in vitro data and the impaired iodide organification observed in patients with Pendred syndrome support a role of pendrin as an apical iodide transporter.