SLC25A48 explained
| SLC25A48 |
| Symbol: | SLC25A48 |
| Entrezgene: | 153328 |
| Hgncid: | 30451 |
| Omim: | 616150 |
| Uniprot: | Q6ZT89 |
| Chromosome: | 5 |
| Arm: | q |
| Band: | 31.1 |
Solute carrier family 25 member 48 is a protein that in humans is encoded by the SLC25A48 gene. This gene encodes a mitochondrial choline carrier. Mutations in this gene are associated with serum choline levels and impact betaine synthesis.[1]
The protein is expressed in the inner membrane of the mitochondria and enriched in brown adipose tissue.[2] [3]
Notes and References
- Web site: Entrez Gene: Solute carrier family 25 member 48 . 2024-07-08.
- Khan A, Unlu G, Lin P, Liu Y, Kilic E, Kenny TC . etal. Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import. . Nat Genet . 2024 . 38977856 . 10.1038/s41588-024-01827-2 .
- Verkerke ARP, Shi X, Abe I, Gerszten RE, Kajimura S. Mitochondrial choline import regulates purine nucleotide pools via SLC25A48. . bioRxiv . 2024 . 38260464 . 10.1101/2023.12.31.573776 . 10802347 .
