Recombinant Human Pendrin(SLC26A4)(H723R)

Code CSB-CF021527HU(A4)(M)
Size How to order?
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity Greater than 85% as determined by SDS-PAGE.
Target Names SLC26A4
Uniprot No. O43511
Research Area Metabolism
Species Homo sapiens (Human)
Source in vitro E.coli expression system
Expression Region 1-780aa(H723R)
Target Protein Sequence MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKTQVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFLTVRDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 86.7 kDa
Protein Length Full Length
Tag Info N-terminal 6xHis-tagged
Form Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.
Datasheet & COA Please contact us to get it.

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Target Background

Function
Sodium-independent transporter of chloride and iodide.
Gene References into Functions
  1. The mutation frequencies of GJB2, SLC26A4, GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively among the Hakka population of Southern China PMID: 30235673
  2. This study suggested considerable genetic heterogeneity in the causation of hearing loss in Dhadkai. Recessive mutations were observed in at least three genes causing hearing loss: OTOF (p.R708X), SLC26A4 (p.Y556X) and CLDN14 (p.V85D). Mutation p.R708X appeared to be the major cause of hearing impairment in Dhadkai. PMID: 29434063
  3. Mutation in SLC26A4 gene is associated with deafness. PMID: 29634755
  4. The functional and molecular defects of variant p.V577A of SLC26A4 appeared more severe in terms of loss in ion transport function, complete retention in the endoplasmic reticulum, and dramatic reduction of expression compatible with the pathological phenotype of the patient. PMID: 29320412
  5. Hsc70 and DNAJC14 are required for the unconventional trafficking of H723R-pendrin. PMID: 27109633
  6. Increased pendrin density in early-onset preeclampsia could be a pathogenetic mechanism in or a part of the adaptational response to the development of the hypertension. PMID: 28949777
  7. the reduced or complete loss of SLC26A4 function was the direct cause of hearing loss in the two patients. PMID: 28990112
  8. genetical variations in SLC26A4 gene could play an important role in development of nonautoimmune adult hypothyroidism. PMID: 28718179
  9. Compared with previous studies, we found that the c.109G>A mutation allele of GJB2 was relatively lower in the profound Chinese nonsyndromic sensorineural hearing loss population in comparison to the moderate-to-profound ones, and the c.1174A>T mutation allele of SLC26A4 was relatively higher. PMID: 28786104
  10. the CEVA haplotype causally contributes to most cases of Caucasian M1 EVA (enlargement of the vestibular aqueduct) and, possibly, some cases of M0 EVA; the CEVA haplotype of SLC26A4 defines the most common allele associated with hereditary hearing loss in Caucasians PMID: 28780564
  11. novel mutation c.2110G>C (p.Glu704Gln) in compound heterozygosity with c.1673 A>T (p.Asn558Ile) in the SLC26A4 gene corresponds to the EVA in this family PMID: 29501320
  12. the evaluation of SLC26A4 CpG site methylation reflected an increased risk of presbycusis among the male participants. PMID: 28498466
  13. Molecular analysis of human solute carrier SLC26A2, SLC26A3, and SLC26A4 anion transporter disease-causing mutations using 3-dimensional homology modeling has been presented. PMID: 28941661
  14. DFNB4 shows vestibular dysfunction, which is strongly linked to hearing loss at low frequencies without any allelic or anatomical predisposing factor PMID: 26900070
  15. We performed simultaneous hearing screening and genetic screening targeting four common deafness mutations (p.V37I and c.235delC of GJB2, c.919-2A>G of SLC26A4, and the mitochondrial m.1555A>G) in 5173 newborns at a tertiary hospital between 2009 and 2015,We delineated the longitudinal auditory features of the highly prevalent GJB2 p.V37I mutation on a general population basis PMID: 27308839
  16. A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico. PMID: 28964290
  17. a later onset of hearing loss is usually related to EVA, in absence of SLC26A4 gene mutations PMID: 28780189
  18. A novel SLC26A4 point mutation is associated with enlarge vestibular aqueduct syndrome. PMID: 28604962
  19. we hypothesize that SLC26A4 coding mutations are genetic causes for nonsyndromic hearing impairment in patients bearing heterozygous GJB2 35delG mutations. PMID: 27861301
  20. Ears with EVA and zero or one mutant allele of SLC26A4 have less severe hearing loss, no difference in prevalence of fluctuation, and a lower prevalence of cochlear implantation in comparison to ears with two mutant alleles of SLC26A4. PMID: 27859305
  21. These studies implicate the involvement of pendrin-facilitated chloride-bicarbonate exchange in the regulation of airway surface liquid volume and suggest the utility of pendrin inhibitors in inflammatory lung diseases. PMID: 26932931
  22. data suggest that many patients with SLC26A4 mutations have significant residual hearing at birth, and that the hearing deterioration in these patients occurs before 3 years of age. After age 3 years, the residual hearing was relatively stable and did not tend to deteriorate PMID: 26650914
  23. Familial enlarged vestibular aqueduct can demonstrate a variety of atypical segregation patterns. Pseudodominant inheritance of SLC26A4 mutations or recessive alleles of other hearing loss genes may be more likely to occur in families in which deaf individuals have intermarried. PMID: 26485571
  24. The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with congenital hypothyroidism. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of Pendred syndrome as a cause of congenital hypothyroidism. PMID: 26886089
  25. patients with impaired pendrin function are likely to be resistant to high blood pressure due to enhanced urinary Na(+) /Cl(-) excretion. These results suggest that pendrin may regulate blood pressure through increased urinary salt excretion. PMID: 27090054
  26. Result of molecular genetic studies, four out of the 20 patients were found to carry six recessive mutations of the SLC26A4 gene in the compound heterozygous and one such gene in the homozygous state which confirmed the hereditary nature of Pendred syndrome in the Russian population. PMID: 28091472
  27. Intronic c.1002-9A > C , c.1545-5T > G and c.1544 + 9C > T enhance mRNA splicing in hybrid minigene assay. PMID: 28389359
  28. We attempted to identify the genetic epidemiology of hereditary hearing loss among the Chinese Han population using next-generation sequencing The entire length of the genes GJB2, SLC26A4, and GJB3 were sequenced from 116 individuals suffering from hearing loss. In our study, SLC26A4 and GJB2 were the most frequently affected genes among the Chinese Han population with hearing loss. PMID: 27610647
  29. The results of the present study indicated that combined heterozygous mutations of the SLC264 and GJB3 genes may result in severe hearing loss. These results contribute to the understanding of clinical phenotype of deaf patients carrying combined mutations in the SLC26A4 and GJB3 genes. PMID: 27176802
  30. A novel splice site mutation of c.1001 + 5G > C was identified, and the novel compound heterozygote of two splice site mutations, c.1001 + 5G > C and c.919-2A > G, in the SLC26A4 gene has been linked to hearing impairment in enlarged vestibular aqueduct patients. PMID: 27729126
  31. This study revealed a novel heterozygous mutation c.2118C>A (p.C706X) compound with c.919-2A>G in SLC26A4 gene in a patient with enlarged vestibular aqueduct syndrome and family members. PMID: 27240500
  32. The heterozygous mutations of p.I188T, p.L582LfsX4 and p.E704K in SLC26A4 gene were responsible for the Large vestibular aqueduct syndrome of the affected individual. PMID: 27863619
  33. The SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss. PMID: 26894580
  34. Data show that 147 known pathogenic mutations were mapped on the solute carrier family 26 member 4 (pendrin) model and analyzed. PMID: 27771369
  35. Twenty-two of 156 deafness cases due to SLC26A4 mutations PMID: 27066914
  36. SLC26A4 mutation was identified in 2.02% of Chinese newborns with congenital hearing loss. PMID: 25649612
  37. 48.67% of the patients were identified with hereditary hearing loss caused by mutations in GJB2, SLC26A4, and mtDNA12SrRNA. PMID: 27247933
  38. Mutations in RAI1, OTOF, and SLC26A4 may have roles in nonsyndromic hearing loss in Altaian families in Siberia PMID: 27082237
  39. A homozygous c.-2071_307+3801del7666 deletion of SLC26A4 was identified in patient D1467-1. This novel genomic deletion was subsequently identified in 18% (4/22) of the Chinese Han EVA probands. PMID: 26549381
  40. GJB2 and SLC26A4 mutations are associated with good post-implant outcomes. PMID: 26397989
  41. Anoctamin and pendrin are two plausible candidates as mediators of apical iodide efflux--{review} PMID: 26313899
  42. Data suggest that ombined hearing screening and genetic screening of gap junction protein beta 2 (GJB2), mtDNA 12srRNA and solute carrier family 26, member 4 protein SLC26A4 mutations can improve the rate of detection. PMID: 26663044
  43. Increased expression of the epithelial anion transporter pendrin/SLC26A4 in nasal polyps of patients with chronic rhinosinusitis PMID: 26143180
  44. c.1331+2T>C was found in 12 homozygous hearing-impaired Roma patients, more frequently in Hungarian than in Slovak patients. The identified common haplotype was defined by 18 SNPs. 14 common SNPs were shared among Pakistani and Roma homozygotes. PMID: 25885414
  45. codon 723 was a hot-spot region in SLC26A4 with a significant impact on the structure and function of pendrin, and acted as one of the genetic factors responsible for the development of hearing loss. PMID: 26035154
  46. The prevalence of SLC26A4 mutations was 12.39%, 8.84%, and 8.57% in Han Chinese, Hui people, and Tibetan participants, respectively. The c.919-2 A>G mutation was the most common form, accounting for 60.47% of all SLC26A4 mutant alleles. PMID: 25761933
  47. Presence of mono-allelic mutations of SLC26A4 in non-syndromic enlarged vestibular aqueduct patients is etiologically associated with this disorder. PMID: 26100058
  48. Based on the results of our two studies, the c.965insA mutation has only been described in Iranian families from northwest Iran, so there is evidence for a founder mutation originating in this part of Iran. PMID: 25239229
  49. We experienced a congenitally deaf 6-year-old boy with a rare p.Thr410Met homozygous mutation in SLC26A4 PMID: 25468468
  50. An absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may contribute to nonsyndromic hearing loss in India. PMID: 26188157

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Involvement in disease Pendred syndrome (PDS); Deafness, autosomal recessive, 4 (DFNB4)
Subcellular Location Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Protein Families SLC26A/SulP transporter (TC 2.A.53) family
Tissue Specificity High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.
Database Links

HGNC: 8818

OMIM: 274600

KEGG: hsa:5172

STRING: 9606.ENSP00000265715

UniGene: Hs.571246

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