AE 1 FISH Probe
The AE 1 FISH probe is designed to hybridize to the AE 1 gene and is primarily used for detecting amplifications and deletions associated with the gene. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe can be labeled in one of five colors. Each probe is sold in a 20 test kit (approximately 20 slides - 22x22 mm area) and includes hybridization buffer. Please note that due to design optimizations, prices are subject to change.
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
SLC4A1-20-OR (Standard Design) | 20 (40 μL) | 200 μL | ||
SLC4A1-20-RE | 20 (40 μL) | 200 μL | ||
SLC4A1-20-GO | 20 (40 μL) | 200 μL | ||
SLC4A1-20-GR | 20 (40 μL) | 200 μL | ||
SLC4A1-20-AQ | 20 (40 μL) | 200 μL | ||
SLC4A1-20-DIG | 20 (40 μL) | 200 μL | ||
SLC4A1-20-BIO | 20 (40 μL) | 200 μL |
Gene 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]
Gene Details
Gene Symbol: SLC4A1
Gene Name: Solute Carrier Family 4 Member 1 (Diego Blood Group)
Chromosome: CHR17: 42325757-42345502
Locus: 17q21.31
FISH Probe Protocols
Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: AE 1 FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: SLC4A1-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping