XB-GENEPAGE-484415
???displayGene.symbol???:
slc22a5
???displayGene.name???:
solute carrier family 22 member 5
???displayGene.synonyms???
octn2
(
Nomenclature history )
???displayGene.geneFunction???
transmembrane solute exchange
AI Protein Function
:
slc22a5 encodes a plasma‑membrane organic cation transporter that mediates high‑affinity carnitine uptake, supporting mitochondrial fatty‑acid β‑oxidation; it shows carnitine transmembrane transporter ...[+]
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Diseases:
Disease Ontology:
systemic primary carnitine deficiency disease
MIM:
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
External Links:
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