SLC25A12
Solute Carrier Family 25 Member 12
Gene Information Card
| Symbol | SLC25A12 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 8604 ncbi.nlm.nih.gov/gene/8604 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | O75746 |
| OMIM ID | 603667 |
| HGNC ID | 10982 |
| Aliases | AGC1, ARALAR, ASPG1 |
Description
SLC25A12 encodes the mitochondrial aspartate/glutamate carrier (AGC1), also known as aralar. This protein is a calcium-binding transporter located in the inner mitochondrial membrane, catalyzing the exchange of aspartate for glutamate across the membrane. It plays a key role in the malate-aspartate shuttle, urea cycle, and myelin synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Global developmental delay with or without seizures | Deficient aspartate/glutamate exchange impairs mitochondrial NADH shuttling and myelin lipid synthesis | OMIM #612949, ClinVar |
| Epileptic encephalopathy, early infantile, 39 | Biallelic loss-of-function mutations in SLC25A12 disrupt energy metabolism in neurons | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.2 | Medium |
| Skeletal Muscle | 6.7 | Medium |
| Liver | 3.1 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HeLa | 7.8 | Moderate expression |
| HEK293 | 6.2 | Moderate expression |
| HepG2 | 2.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.868C>T (p.Arg290*) | Nonsense | Rare | Loss of function |
| c.1132G>A (p.Gly378Arg) | Missense | Rare | Impaired transport activity |
| c.1465C>T (p.Arg489Trp) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated protein or nonsense-mediated decay, causing AGC1 deficiency.
Gain of Function (GOF)
Not reported for SLC25A12.
Dominant Negative (DN)
Not reported for SLC25A12.
View complete mutation data：
Gene Ontology (GO)
| • ATP:ADP antiporter activity (GO:0005471) | • antiporter activity (GO:0015297) |
| • mitochondrial inner membrane (GO:0005743) | • ion transport (GO:0006811) |
| • transmembrane transport (GO:0055085) |
Pathways
• Malate-aspartate shuttle
• Urea cycle
• Aspartate-glutamate metabolism
Protein Summary
The SLC25A12 protein (AGC1) is a 678-amino acid mitochondrial inner membrane carrier with six transmembrane helices. It contains calcium-binding EF-hand domains in its N-terminal region, regulating its transport activity. AGC1 is essential for the malate-aspartate shuttle, transferring reducing equivalents into mitochondria, and for providing aspartate for myelin synthesis in oligodendrocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A12 Knockout HEK293 Cell Line | EDJ-KQ6301 | Human | 8604 | Details Get a Quote |
| SLC25A12 Knockout A-549 Cell Line | EDJ-KQ30206 | Human | 8604 | Details Get a Quote |
| SLC25A12 Knockout HeLa Cell Line | EDJ-KQ30208 | Human | 8604 | Details Get a Quote |
| SLC25A12 Knockout HCT 116 Cell Line | EDJ-KQ28892 | Human | 8604 | Details Get a Quote |
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