| SLC25A48 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | SLC25A48 | ||||||
| NCBI gene | 153328 | ||||||
| HGNC | 30451 | ||||||
| OMIM | 616150 | ||||||
| UniProt | Q6ZT89 | ||||||
| Other data | |||||||
| Locus | Chr. 5 q31.1 | ||||||
| |||||||
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.
The protein is expressed in the inner membrane of the mitochondria and enriched in brown adipose tissue.
References
- "Entrez Gene: Solute carrier family 25 member 48". Retrieved 2024-07-08.
- Khan A, Unlu G, Lin P, Liu Y, Kilic E, Kenny TC; et al. (2024). "Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import". Nat Genet. doi:10.1038/s41588-024-01827-2. PMID 38977856.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - Verkerke ARP, Shi X, Abe I, Gerszten RE, Kajimura S (2024). "Mitochondrial choline import regulates purine nucleotide pools via SLC25A48". bioRxiv. doi:10.1101/2023.12.31.573776. PMC 10802347. PMID 38260464.
{{cite journal}}: CS1 maint: multiple names: authors list (link)