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SLC25A48

From Wikipedia, the free encyclopedia
SLC25A48
Identifiers
SymbolSLC25A48
NCBI gene153328
HGNC30451
OMIM616150
UniProtQ6ZT89
Other data
LocusChr. 5 q31.1
Search for
StructuresSwiss-model
DomainsInterPro

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

[edit]
  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. 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)