SLC25A21
Solute Carrier Family 25 Member 21
Gene Information Card
| Symbol | SLC25A21 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q13.3 |
| NCBI Gene ID | 89874 ncbi.nlm.nih.gov/gene/89874 |
| Ensembl ID | ENSG00000183032 |
| UniProt ID | Q9BQT8 |
| OMIM ID | 608157 |
| HGNC ID | 14411 |
| Aliases | ODC, ODC1, ODC2, ODCp, ODC1L, ODC2L, SLC25A21-AS1 |
Description
SLC25A21 encodes a member of the mitochondrial carrier family (SLC25) that transports 2-oxoadipate and other dicarboxylates across the inner mitochondrial membrane. It is involved in the catabolism of lysine, tryptophan, and hydroxylysine. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 2-Oxoadipic Aciduria | Deficiency in SLC25A21 impairs mitochondrial transport of 2-oxoadipate, leading to accumulation of 2-oxoadipic acid and related metabolites. | ClinVar, OMIM |
| Combined Oxidative Phosphorylation Deficiency 23 | Loss-of-function mutations disrupt mitochondrial substrate transport, affecting energy metabolism. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Heart | 6.3 | Low |
| Skeletal Muscle | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.740G>A (p.Arg247Gln) | Missense | Rare | Reduced transport activity; associated with 2-oxoadipic aciduria |
| c.1121T>C (p.Leu374Pro) | Missense | Rare | Impaired protein stability and function |
| c.1342C>T (p.Arg448*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations reduce or abolish mitochondrial oxodicarboxylate transport, leading to metabolic accumulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • antiporter activity (GO:0015297) |
| • 2-oxoadipate transmembrane transporter activity (GO:0015187) | • 2-oxoadipate transport (GO:0015840) |
| • transport (GO:0006810) |
Pathways
• Lysine degradation (KEGG: hsa00310)
• Tryptophan metabolism (KEGG: hsa00380)
• Mitochondrial transport (Reactome: R-HSA-1268020)
Protein Summary
SLC25A21 is a mitochondrial inner membrane carrier protein that mediates the import of 2-oxoadipate and related dicarboxylates into the mitochondrial matrix. It plays a critical role in the catabolism of lysine, tryptophan, and hydroxylysine. The protein contains three tandem repeats of a characteristic mitochondrial carrier domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A21 Knockout HEK293 Cell Line | EDJ-KQ1981 | Human | 89874 | Details Get a Quote |
| SLC25A21 Knockout A-549 Cell Line | EDJ-KQ21957 | Human | 89874 | Details Get a Quote |
| SLC25A21 Knockout HCT 116 Cell Line | EDJ-KQ21958 | Human | 89874 | Details Get a Quote |
| SLC25A21 Knockout HeLa Cell Line | EDJ-KQ21959 | Human | 89874 | Details Get a Quote |
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