SLC8B1

SLC8B1

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

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

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

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

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.

See Also

• Calcium signaling
• Mitochondrial dynamics
• Ion transport

External Links

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