Summary: The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008].
These shRNA constructs were designed against multiple splice variants at this gene locus. To be certain that your variant of interest is targeted, align it with our published shRNA design sequences. If these do not align, please utilize our custom shRNA service.
OriGene guarantees that the sequences in the shRNA expression cassettes are verified to correspond to the target gene with 100% identity. One of the four constructs at minimum are guaranteed to produce 70% or more gene expression knock-down provided a minimum transfection efficiency of 80% is achieved. Western Blot data is recommended over qPCR to evaluate the silencing effect of the shRNA constructs 72 hrs post transfection. To properly assess knockdown, the gene expression level from the included scramble control vector must be used in comparison with the target-specific shRNA transfected samples.
For non-conforming shRNA, requests for replacement product must be made within ninety (90) days from the date of delivery of the shRNA kit. To arrange for a free replacement with newly designed constructs, please contact Technical Services at firstname.lastname@example.org. Please provide your data indicating the transfection efficiency and measurement of gene expression knockdown compared to the scrambled shRNA control (Western Blot data preferred).
* Delivery time in business days.Occasional delay may occur due to complexity of the constructs.
The SNARE Proteins SNAP25 and Synaptobrevin Are Involved in Endocytosis at Hippocampal Synapses, Zhen Zhang, Dongsheng Wang, Tao Sun, Jianhua Xu, Hsueh-Cheng Chiang, Wonchul Shin, and Ling-Gang Wu,
J. Neurosci., May 2013; 33: 9169 - 9175.
[SNAP25 ] The SNARE Proteins SNAP25 and Synaptobrevin Are Involved in Endocytosis at Hippocampal Synapses, Zhen Zhang, Dongsheng Wang, Tao Sun, Jianhua Xu, Hsueh-Cheng Chiang, Wonchul Shin, and Ling-Gang Wu,
J. Neurosci., May 2013; 33: 9169 - 9175.
[VAMP2 ] Mitochondrial transcription factor A regulated ionizing radiation-induced mitochondrial biogenesis in human lung adenocarcinoma A549 cells, Jing Yu, Qisen Wang, Ni Chen, Yuxiang Sun, Xiaofei Wang, Lijun Wu, Shaopeng Chen, Hang Yuan, An Xu, and Jun Wang,
J Radiat Res, May 2013; 10.1093/jrr/rrt046.
[TFAM] Inhibition of prolyl 4-hydroxylase, beta polypeptide (P4HB) attenuates temozolomide resistance in malignant glioma via the endoplasmic reticulum stress response (ERSR) pathways, Stella Sun, Derek Lee, Amy S.W. Ho, Jenny K.S. Pu, X.Q. Zhang, Nikki P. Lee, Philip J.R. Day, W.M. Lui, C.F. Fung, and Gilberto K.K. Leung,
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[P4HB] Steroidogenic enzyme Cyp11a1 regulates Type 2 CD8+ T cell skewing in allergic lung disease, Yi Jia, Joanne Domenico, Katsuyuki Takeda, Junyan Han, Meiqin Wang, Michael Armstrong, Nichole Reisdorph, Brian P. O’Connor, Joseph J. Lucas, and Erwin W. Gelfand,
PNAS, May 2013; 110: 8152 - 8157.
[Cyp11a1 ] miR-26a Plays an Important Role in Cell Cycle Regulation in ACTH-Secreting Pituitary Adenomas by Modulating Protein Kinase C, Erica Gentilin, Federico Tagliati, Carlo Filieri, Daniela Molè, Mariella Minoia, Maria Rosaria Ambrosio, Ettore C degli Uberti, and Maria Chiara Zatelli,
Endocrinology, May 2013; 154: 1690 - 1700.
[PRKCD] BAF complexes facilitate decatenation of DNA by topoisomerase IIa, Emily C. Dykhuizen, Diana C. Hargreaves, Erik L. Miller, Kairong Cui, Andrey Korshunov, + et al.,
Nature 497, 624-627 doi:10.1038/nature12146
[Arid1a ] Deacetylation of p53 induces autophagy by suppressing Bmf expression, Amelia U. Contreras, Yohannes Mebratu, Monica Delgado, Gilbert Montano, Chien-an A. Hu, Stefan W. Ryter, Augustine M.K. Choi, Yuting Lin, Jialing Xiang, Hitendra Chand, and Yohannes Tesfaigzi,
J. Cell Biol., Apr 2013; 201: 427 - 437.
[p53] Premetastatic soil and prevention of breast cancer brain metastasis, Yan Liu, Akemi Kosaka, Maki Ikeura, Gary Kohanbash, Wendy Fellows-Mayle, Linda A. Snyder, and Hideho Okada,
Neuro Oncology, Apr 2013; 10.1093/neuonc/not031.
[COX2] Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis, J. Prause, A. Goswami, I. Katona, A. Roos, M. Schnizler, E. Bushuven, A. Dreier, S. Buchkremer, S. Johann, C. Beyer, M. Deschauer, D. Troost, and J. Weis,
Hum. Mol. Genet., Apr 2013; 22: 1581 - 1600.
* Delivery time is an estimate in business days. Occasional delays may occur due to unforeseen complexities in the preparation of your construct. International customers may expect an additional 1-2 weeks in shipping