SLC22A5
protein-coding gene in the species Homo sapiens
SLC22A5 is a membrane transport protein associated with primary carnitine deficiency. This protein is involved in the active cellular uptake of carnitine. It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine. Such polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for the elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. Mutations in the SLC22A5 gene cause systemic primary carnitine deficiency, which can lead to heart failure.
Structure
The SLC22A5 gene, containing 10 exons, is located on the q arm of chromosome 5 in position 31.1 and spans 25,910 base pair. The gene produces a 63 kDa protein composed of 557 amino acids. The protein has 12 transmembrane helices (TM, with a long extracellular loop of 107 amino acids between the first two transmembrane domains and an intracellular loop between . This long extracellular loop has three potential sites for N-glycosylation, and the intracellular loop has an ATP/GTP binding motif. In putative intracellular domains, there are five potential sites for protein-kinase C-dependent phosphorylation and one for protein-kinase A-dependent phosphorylation.
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The subject matters to the science & nature register because the source frames it as protein-coding gene in the species Homo sapiens. Its deeper value depends on whether names, dates, institutions and citations support that framing.
Datasets, specimens, observations and peer-reviewed methods provide the appropriate test for the technical claims summarized here. The source revision retrieved here is dated Apr 16, 2026. The linked authority identifier is Q14912759. None of the 0 selected statements returned an explicit reference.
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This entry incorporates text from “SLC22A5” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.