SLC8B1: Difference between revisions

SLC8B1
Symbol	SLC8B1
HGNC ID	23384
Alternative symbols	–
Entrez Gene	347732
OMIM	612992
RefSeq	NM_001100112
UniProt	Q8IVJ1
Chromosome	1q32.1
Locus supplementary data	–

Latest revision as of 20:47, 30 December 2024

SLC8B1 is a gene that encodes a protein known as the sodium/lithium/calcium exchanger B1, also referred to as NCLX. This protein is part of the solute carrier family and plays a crucial role in the regulation of intracellular calcium levels by mediating the exchange of sodium (Na⁺), lithium (Li⁺), and calcium (Ca²⁺) ions across the mitochondrial membrane.

Function[edit]

The primary function of the SLC8B1 gene product, NCLX, is to maintain calcium homeostasis within the mitochondria. It facilitates the extrusion of calcium ions from the mitochondria in exchange for sodium ions, which is essential for various cellular processes, including energy metabolism, apoptosis, and signal transduction.

Clinical Significance[edit]

Mutations or dysregulation of the SLC8B1 gene can lead to disturbances in calcium homeostasis, which may contribute to the pathogenesis of several diseases. Research has implicated alterations in NCLX function in conditions such as cardiovascular diseases, neurodegenerative disorders, and metabolic syndrome.

Research[edit]

Ongoing research is focused on understanding the precise mechanisms by which NCLX regulates mitochondrial calcium levels and its impact on cellular physiology. Studies are also exploring the potential of targeting NCLX for therapeutic interventions in diseases associated with mitochondrial dysfunction.

References[edit]

External Links[edit]

[NCBI Gene: SLC8B1](https://www.ncbi.nlm.nih.gov/gene/347732)
[UniProt: Q8IVJ1](https://www.uniprot.org/uniprot/Q8IVJ1)

@@ Line 1: / Line 1: @@
-'''SLC8B1''' is a gene that encodes the protein Sodium/calcium exchanger 3 (NCX3). This protein is a member of the [[solute carrier family]] of proteins, specifically the SLC8 family. The SLC8 family is responsible for the transport of sodium and calcium ions across the cell membrane, a process that is crucial for maintaining cellular homeostasis.
+{{Infobox gene
+| name = SLC8B1
+| image = <!-- Image removed -->
+| caption = <!-- Image caption removed -->
+| HGNCid = 23384
+| symbol = SLC8B1
+| alt_symbols = NCLX
+| EntrezGene = 347732
+| OMIM = 612992
+| RefSeq = NM_001100112
+| UniProt = Q8IVJ1
+| chromosome = 1
+| arm = q
+| band = 32.1
+}}
+'''SLC8B1''' is a gene that encodes a protein known as the '''sodium/lithium/calcium exchanger B1''', also referred to as '''NCLX'''. This protein is part of the solute carrier family and plays a crucial role in the regulation of intracellular calcium levels by mediating the exchange of sodium (Na<sup>+</sup>), lithium (Li<sup>+</sup>), and calcium (Ca<sup>2+</sup>) ions across the mitochondrial membrane.
 == Function ==
+The primary function of the SLC8B1 gene product, NCLX, is to maintain calcium homeostasis within the mitochondria. It facilitates the extrusion of calcium ions from the mitochondria in exchange for sodium ions, which is essential for various cellular processes, including [[energy metabolism]], [[apoptosis]], and [[signal transduction]].
-The SLC8B1 gene encodes the NCX3 protein, which is primarily expressed in the brain and heart. This protein plays a crucial role in maintaining the balance of sodium and calcium ions within cells. It does this by using the energy from the flow of sodium ions into the cell to pump calcium ions out of the cell. This process is essential for a variety of cellular functions, including muscle contraction, nerve impulse transmission, and cell signaling.
 == Clinical Significance ==
+Mutations or dysregulation of the SLC8B1 gene can lead to disturbances in calcium homeostasis, which may contribute to the pathogenesis of several diseases. Research has implicated alterations in NCLX function in conditions such as [[cardiovascular diseases]], [[neurodegenerative disorders]], and [[metabolic syndrome]].
-Mutations in the SLC8B1 gene have been associated with a variety of medical conditions. For example, alterations in the function of the NCX3 protein can lead to an imbalance of sodium and calcium ions within cells, which can in turn lead to cell death. This has been implicated in a variety of neurological disorders, including [[Alzheimer's disease]] and [[Parkinson's disease]]. Additionally, changes in the function of the NCX3 protein can also affect heart function, potentially leading to conditions such as [[heart failure]] and [[arrhythmia]].
 == Research ==
+Ongoing research is focused on understanding the precise mechanisms by which NCLX regulates mitochondrial calcium levels and its impact on cellular physiology. Studies are also exploring the potential of targeting NCLX for therapeutic interventions in diseases associated with mitochondrial dysfunction.
-Research into the SLC8B1 gene and the NCX3 protein is ongoing, with scientists seeking to better understand the role of this gene and protein in health and disease. This research could potentially lead to new treatments for a variety of conditions, including neurological disorders and heart disease.
-[[File:SLC8B1 gene location on human chromosome 14.png|thumb|right|300px|Location of the SLC8B1 gene on human chromosome 14.]]
 == See Also ==
+* [[Calcium signaling]]
+* [[Mitochondrial dynamics]]
+* [[Ion transport]]
-* [[Solute carrier family]]
+== References ==
-* [[Sodium-calcium exchanger]]
+<references/>
-* [[Cell membrane]]
-* [[Cellular homeostasis]]
-* [[Alzheimer's disease]]
-* [[Parkinson's disease]]
-* [[Heart failure]]
-* [[Arrhythmia]]
-[[Category:Genes]]
+== External Links ==
-[[Category:Proteins]]
+* [NCBI Gene: SLC8B1](https://www.ncbi.nlm.nih.gov/gene/347732)
-[[Category:Neurology]]
+* [UniProt: Q8IVJ1](https://www.uniprot.org/uniprot/Q8IVJ1)
-[[Category:Cardiology]]
-{{Genes on human chromosome 14}}
+[[Category:Genes on human chromosome 1]]
-{{Solute carrier family}}
+[[Category:Solute carrier family]]
-{{medicine-stub}}
+[[Category:Calcium signaling]]