SLC25A17
Solute Carrier Family 25 Member 17 (Peroxisomal Adenine Nucleotide Transporter)
Gene Information Card
| Symbol | SLC25A17 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 10478 ncbi.nlm.nih.gov/gene/10478 |
| Ensembl ID | ENSG00000100330 |
| UniProt ID | O43808 |
| OMIM ID | 606090 |
| HGNC ID | 10986 |
| Aliases | PM34, ANT2, ANT, MGC138290 |
Description
SLC25A17 encodes a member of the mitochondrial carrier family (SLC25) that localizes to the peroxisomal membrane. The protein functions as an adenine nucleotide transporter, importing ATP into peroxisomes in exchange for AMP, which is essential for peroxisomal metabolic processes such as β-oxidation of fatty acids and plasmalogen synthesis. Mutations in SLC25A17 are associated with peroxisomal biogenesis disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal biogenesis disorder 6A (Zellweger syndrome spectrum) | Loss-of-function mutations impair ATP import into peroxisomes, disrupting peroxisomal metabolism and biogenesis. | ClinVar, OMIM |
| Peroxisomal biogenesis disorder 6B (neonatal adrenoleukodystrophy) | Same mechanism as Zellweger syndrome but with milder phenotype. | OMIM |
| Peroxisomal acyl-CoA oxidase deficiency | Indirect: reduced peroxisomal ATP affects fatty acid oxidation. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.5 | Low |
| Brain | 6.2 | Low |
| Testis | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocyte model |
| HEK293 | 8.9 | Embryonic kidney |
| HeLa | 6.7 | Cervical carcinoma |
| K562 | 4.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.650G>A (p.Gly217Glu) | Missense | <0.01% | Impaired ATP transport; associated with Zellweger syndrome |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; severe peroxisomal disorder |
| c.832C>T (p.Arg278Trp) | Missense | <0.01% | Reduced transporter activity; neonatal adrenoleukodystrophy |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce or abolish ATP/AMP transport across the peroxisomal membrane, leading to peroxisomal dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Peroxisomal lipid metabolism (Reactome: R-HSA-8978868)
• Transport of nucleotides and nucleosides (Reactome: R-HSA-72764)
Protein Summary
SLC25A17 is a 317-amino acid peroxisomal membrane protein with six transmembrane domains, belonging to the mitochondrial carrier family. It mediates the electroneutral exchange of ATP for AMP across the peroxisomal membrane, providing the energy required for peroxisomal metabolic reactions. The protein is ubiquitously expressed with highest levels in liver and kidney. Defects in SLC25A17 cause peroxisomal biogenesis disorders, including Zellweger syndrome spectrum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A17 Knockout HEK293 Cell Line | EDJ-KQ7056 | Human | 10478 | Details Get a Quote |
| SLC25A17 Knockout A-549 Cell Line | EDJ-KQ31854 | Human | 10478 | Details Get a Quote |
| SLC25A17 Knockout HCT 116 Cell Line | EDJ-KQ31855 | Human | 10478 | Details Get a Quote |
| SLC25A17 Knockout HeLa Cell Line | EDJ-KQ31856 | Human | 10478 | Details Get a Quote |
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