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]
| SLC25A48 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | SLC25A48 | ||||||
| NCBI gene | 153328 | ||||||
| HGNC | 30451 | ||||||
| OMIM | 616150 | ||||||
| UniProt | Q6ZT89 | ||||||
| Other data | |||||||
| Locus | Chr. 5 q31.1 | ||||||
| |||||||
The protein is expressed in the inner membrane of the mitochondria and enriched in brown adipose tissue.[2] [3]
References
edit- ^ "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)