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SLC25A48

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SLC25A48
Identifiers
SymbolSLC25A48
NCBI gene153328
HGNC30451
OMIM616150
UniProtQ6ZT89
Other data
LocusChr. 5q31.1
Search for
StructuresSwiss-model
DomainsInterPro

Solute carrier family 25 member 48 is aprotein that in humans is encoded by theSLC25A48gene. This gene encodes amitochondrialcholinecarrier.Mutations in this gene are associated with serum choline levels and impactbetaine 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". Retrieved2024-07-08.
  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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