SLC25A48

Last updated
SLC25A48
Identifiers
SymbolSLC25A48
NCBI gene 153328
HGNC 30451
OMIM 616150
UniProt Q6ZT89
Other data
Locus Chr. 5 q31.1
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Structures Swiss-model
Domains InterPro

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

  1. ↑ "Entrez Gene: Solute carrier family 25 member 48" . Retrieved 2024-07-08.
  2. ↑ 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. PMC   11887816 . PMID   38977856.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  3. ↑ 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)
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