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]
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. 56 (8): 1614–1623. doi:10.1038/s41588-024-01827-2. PMC 11887816. PMID 38977856.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Verkerke ARP, Shi X, Abe I, Gerszten RE, Kajimura S (2024). “SLC25A48 controls mitochondrial choline import and metabolism”. Cell Metabolism. 36 (9): 2156–2166.e9. bioRxiv 10.1101/2023.12.31.573776. doi:10.1016/j.cmet.2024.07.010.
{{cite journal}}: CS1 maint: multiple names: authors list (link)