SLC8B1: Sodium/Calcium Exchanger NCLX
Mitochondrial sodium/calcium exchanger critical for calcium homeostasis and cell survival
Gene Information Card
| Symbol | SLC8B1 |
|---|---|
| Full Name | Solute Carrier Family 8 Member B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 80024 ncbi.nlm.nih.gov/gene/80024 |
| Ensembl ID | ENSG00000189079 |
| UniProt ID | Q6J4K2 |
| OMIM ID | 609841 |
| HGNC ID | 29173 |
| Aliases | NCLX, FLJ40442 |
Description
SLC8B1 (solute carrier family 8 member B1), also known as NCLX, encodes a mitochondrial sodium/calcium exchanger that mediates the efflux of calcium from mitochondria in exchange for sodium. This protein is essential for mitochondrial calcium homeostasis, impacting cellular metabolism, apoptosis, and signaling. It is widely expressed and localized to the inner mitochondrial membrane.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 48 | Loss-of-function mutations impair mitochondrial calcium extrusion, leading to neuronal hyperexcitability and seizures | ClinVar, OMIM |
| Cardiac hypertrophy | Dysregulation of mitochondrial calcium handling via NCLX contributes to pathological remodeling | PubMed, NCBI |
| Neurodegenerative disorders | Altered mitochondrial calcium dynamics linked to NCLX dysfunction in Parkinson's and Alzheimer's models | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Medium |
| Skeletal muscle | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| SH-SY5Y | 10.2 | Moderate expression |
| HepG2 | 7.8 | Low expression |
| K562 | 5.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.593C>T (p.Thr198Met) | Missense | Rare | Likely loss of function; associated with epileptic encephalopathy |
| c.1124G>A (p.Arg375Gln) | Missense | Rare | Uncertain significance; reported in ClinVar |
| c.1465C>T (p.Arg489Trp) | Missense | Rare | Likely pathogenic; disrupts ion transport |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in conserved transmembrane domains reduce calcium efflux activity, leading to mitochondrial calcium overload and neuronal dysfunction.
Gain of Function (GOF)
Not reported for SLC8B1.
Dominant Negative (DN)
Not reported for SLC8B1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005432 - calcium:sodium antiporter activity | • GO:0015297 - antiporter activity |
| • GO:0005739 - mitochondrion | • GO:0005743 - mitochondrial inner membrane |
| • GO:0006812 - cation transport | • GO:0051560 - mitochondrial calcium ion homeostasis |
Pathways
• Mitochondrial calcium transport (Reactome: R-HSA-8949215)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
The SLC8B1 protein (NCLX) is a 584-amino acid transmembrane protein localized to the inner mitochondrial membrane. It functions as a sodium/calcium exchanger, exporting calcium from the mitochondrial matrix in exchange for sodium ions. This activity is critical for preventing mitochondrial calcium overload, maintaining ATP production, and regulating apoptosis. The protein contains 10 transmembrane helices and a conserved sodium/calcium exchanger domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC8B1 Knockout HEK293 Cell Line | EDJ-KQ15288 | Human | 80024 | Details Get a Quote |
| SLC8B1 Knockout HCT 116 Cell Line | EDC07717 | Human | 80024 | Details Get a Quote |
| SLC8B1 Knockout A-549 Cell Line | EDJ-KQ45986 | Human | 80024 | Details Get a Quote |
| SLC8B1 Knockout HeLa Cell Line | EDJ-KQ45987 | Human | 80024 | Details Get a Quote |
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