SLC25A15
Solute Carrier Family 25 Member 15
Gene Information Card
| Symbol | SLC25A15 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 15 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 10166 ncbi.nlm.nih.gov/gene/10166 |
| Ensembl ID | ENSG00000102743 |
| UniProt ID | Q9Y619 |
| OMIM ID | 603861 |
| HGNC ID | 10985 |
| Aliases | ORNT1, ORC1, HHH |
Description
SLC25A15 encodes the mitochondrial ornithine translocase (ORNT1), a member of the solute carrier family 25. This protein is located in the inner mitochondrial membrane and transports ornithine from the cytosol into the mitochondrial matrix, a critical step in the urea cycle. Defects in this gene cause hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, an autosomal recessive disorder of urea cycle metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome | Loss-of-function mutations impair ornithine transport into mitochondria, disrupting the urea cycle and leading to accumulation of ammonia and ornithine. | OMIM #238970; ClinVar pathogenic variants |
| Ornithine Translocase Deficiency | Same as HHH syndrome; caused by biallelic SLC25A15 mutations. | OMIM #603861 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small Intestine | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Pancreas | 4.2 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK 293 | 5.6 | Embryonic kidney cells |
| HeLa | 4.1 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.535C>T (p.Arg179*) | Nonsense | Unknown | Premature stop; loss of function |
| c.682G>A (p.Gly228Arg) | Missense | Unknown | Impaired ornithine transport |
| c.754_755delAG (p.Ser252fs) | Frameshift | Unknown | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SLC25A15 mutations result in loss of ornithine transport activity, causing HHH syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Urea cycle (Reactome: R-HSA-70635)
• Mitochondrial ornithine transport (Reactome: R-HSA-8866423)
Protein Summary
The SLC25A15 protein (ornithine translocase, ORNT1) is a 301-amino acid mitochondrial inner membrane carrier. It functions as a homodimer to exchange cytosolic ornithine for mitochondrial citrulline, a critical step in the urea cycle. Defects lead to HHH syndrome, characterized by hyperornithinemia, hyperammonemia, and homocitrullinuria.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A15 Knockout HEK293 Cell Line | EDJ-KQ6929 | Human | 10166 | Details Get a Quote |
| SLC25A15 Knockout A-549 Cell Line | EDJ-KQ31575 | Human | 10166 | Details Get a Quote |
| SLC25A15 Knockout HCT 116 Cell Line | EDJ-KQ31576 | Human | 10166 | Details Get a Quote |
| SLC25A15 Knockout HeLa Cell Line | EDJ-KQ31577 | Human | 10166 | Details Get a Quote |
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