Characterization of Exosomal SLC22A5 (OCTN2) carnitine transporter
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DOI: 10.1038/s41598-018-22170-7
Abstract: Exosomes are extracellular vesicles involved in cell-to-cell communication. Previous large scale proteomics revealed that they contain SLC proteins. However, no data on the function of exosomal SLCs is available, so far. An SLC localized in… read more here.
Keywords: slc22a5; carnitine transporter; octn2; carnitine ... See more keywords
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2210247119
Abstract: Significance Interpretation of missense variants in clinically important genes is a critical challenge. Loss-of-function (LOF) variants in SLC22A5 (OCTN2) cause Carnitine Transporter Deficiency (CTD), a rare but potentially lethal inborn error of metabolism. Motivated by… read more here.
Keywords: specific variant; protein specific; carnitine transporter; transporter deficiency ... See more keywords