The SLC4A1 gene, also known as the Aquaporin-1 (AQP1) gene, encodes a protein that functions as a water channel in cell membranes. This protein is primarily expressed in the kidneys, liver, and red blood cells, and its activity is crucial for the regulation of water balance, osmotic pressure, and blood volume.
The SLC4A1 gene plays a key role in the kidney’s ability to reabsorb water from the urine, helping to maintain proper hydration and prevent dehydration. It also facilitates the movement of water across cell membranes in the liver, where it is involved in the metabolism and transport of drugs and other substances.
In addition to its role in water balance, the SLC4A1 gene has been found to be involved in various disease states. Abnormal expression or mutations in the SLC4A1 gene can lead to conditions such as diabetes insipidus, a disorder characterized by excessive thirst and urination, and hemolytic anemia, Recent studies have suggested that the SLC4A1 gene may also play a role in the development of certain cancers, such as renal cell carcinoma. It has been observed that the SLC4A1 gene is upregulated in cancer cells, contributing to increased cell proliferation and tumor growth.
SLC4A1 gene is an essential gene that encodes a protein responsible for regulating water balance and blood volume. Its activity is crucial for the proper functioning of the kidneys, liver, and red blood cells. Abnormal expression or mutations in this gene can lead to diverse health issues, highlighting the importance of maintaining proper regulation of water channels in the body. Further research into the function and regulation of the SLC4A1 gene may contribute to the development of new therapeutic strategies for the treatment of these conditions.
Mutations in SLC4A1, which encodes anion exchanger 1 (AE1), are the leading cause of autosomal recessive distal renal tubular acidosis (AR dRTA) in Southeast Asians. The researchers investigated the molecular mechanism underlying autosomal recessive AR dRTA in a Southeast Asian family, which is commonly caused by mutations in the SLC4A1 gene encoding AE1. Using molecular genetic techniques, they analyzed SLC4A1 mutations in the patient and family members. To assess how these mutations affect AE1, they used protein structure modeling and studied the expression and stability of wild-type and mutant AE1 proteins in HEK293T cells. They identified novel compound heterozygous mutations, including c.1199_1225del and c.1331C > A, which caused Southeast Asian ovalocytosis (SAO) and affected the protein structure.
Figure 1. To uncover the molecular mechanisms of dRTA linked to a novel compound heterozygous SLC4A1 mutation, the researchers predicted the mutation's impact on kAE1 protein structure and assessed its expression and stability in HEK293T cells. (Deejai N, et al., 2022)
Creative Biogene's Human SLC4A1 Stable Cell Line - HEK293 is a valuable tool. This cell line, which stably expresses SLC4A1, aids in studying the expression, stability, and localization of both wild-type and mutant AE1 proteins. Creative Biogene's cell line customization services can further tailor these models to meet specific research needs, facilitating precise analysis of how genetic mutations affect protein function and contribute to conditions like AR dRTA.
The Human SLC4A1 Stable HEK293 Cell Line is an invaluable resource in biomedical research, offering a unique platform for studying the function and regulation of the SLC4A1 gene and its protein product, aquaporin-1 (AQP1). This stable cell line allows researchers to investigate the role of AQP1 in water transport across cell membranes and its significance in maintaining water balance and osmoregulation in the body.
One of the key applications of the Human SLC4A1 Stable HEK293 Cell Line is in the exploration of therapeutic targets for diseases associated with SLC4A1 dysfunction. By testing various compounds and drugs on this cell line, researchers can identify potential treatments for conditions such as edema, dehydration, and electrolyte imbalances.
Moreover, this cell line is also used to study the molecular mechanisms underlying the development of certain cancers, as SLC4A1 has been found to play a role in tumor cell proliferation and migration. By manipulating the expression and function of AQP1 in these cells, researchers can gain insights into the potential implications of SLC4A1 dysregulation in cancer progression.
Additionally, the Human SLC4A1 Stable HEK293 Cell Line serves as a valuable model for investigating the functional significance of SLC4A1 in human health and disease. It can be used to explore the effects of genetic modifications, environmental factors, and pharmacological interventions on AQP1 expression and function.
In summary, the Human SLC4A1 Stable HEK293 Cell Line is a powerful tool that enables researchers to unravel the complexities of SLC4A1 function and its relevance to human health and disease, and to discover potential therapeutic strategies for the treatment of related conditions.
Customer Q&As
What is the SLC4A1 gene and its function?
A: The SLC4A1 gene encodes for the AE1 protein, also known as band 3. This protein is a major component of the membrane of red blood cells and plays a critical role in the transport of ions, such as chloride and bicarbonate, across the cell membrane.
How does the SLC4A1 gene contribute to acid-base balance?
A: The SLC4A1 gene product, AE1, contributes to the maintenance of acid-base balance in the body by facilitating the exchange of bicarbonate for chloride ions. This exchange is important for the proper function of the respiratory and renal systems in regulating pH levels.
Are there any diseases associated with mutations in the SLC4A1 gene?
A: Yes, mutations in the SLC4A1 gene can lead to hereditary spherocytosis and hereditary elliptocytosis, which are red blood cell disorders characterized by abnormal cell shape and increased osmotic fragility. These mutations can affect the stability and function of the AE1 protein, disrupting ion transport and leading to clinical symptoms.
How is the expression of the SLC4A1 gene regulated during development and in response to physiological changes?
A: The expression of the SLC4A1 gene is tightly regulated during red blood cell development and in response to physiological changes. Transcription factors, such as GATA-1 and NF-E2, play a role in the transcriptional regulation of SLC4A1. Additionally, the expression of AE1 can be modulated by oxygen levels and other cellular signals to ensure proper ion transport and cell function.
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The provider of the Human SLC4A1 Stable Cell Line - HEK293 has a well-established reputation and extensive experience in the gene editing industry. This ensures the high quality and reliability of the product, offering researchers confidence in the supplier's expertise and commitment to quality.
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The production of the Human SLC4A1 Stable Cell Line - HEK293 complies with standardized protocols and rigorous quality control measures. This certification guarantees the cell line's consistency and reliability, meeting industry standards and providing researchers with peace of mind in their experimental outcomes.
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The supplier offers personalized customization services for the Human SLC4A1 Stable Cell Line - HEK293, allowing researchers to tailor the cell line to their specific experimental needs. This flexibility enables researchers to optimize the cell line for their unique research objectives, enhancing its applicability and impact on their studies.
United Kingdom
10/22/2020
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The supplier provides comprehensive technical support and training for the Human SLC4A1 Stable Cell Line - HEK293. This ensures that researchers receive the necessary guidance and expertise to effectively utilize the cell line in their experimental setups, maximizing its potential and facilitating successful research outcomes.
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