(Solute Carrier Family 25 (Carnitine/acylcarnitine Translocase), Member 20 (SLC25A20))
This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008].
Häggmark, Mikus, Mohsenchian, Hong, Forsström, Gajewska, Barańczyk-Kuźma, Uhlén, Schwenk, Kuźma-Kozakiewicz, Nilsson: "Plasma profiling reveals three proteins associated to amyotrophic lateral sclerosis." in: Annals of clinical and translational neurology, Vol. 1, Issue 8, pp. 544-53, (2014) (PubMed).
Tachibana, Takeuchi, Inada, Yamasaki, Ishimoto, Tanaka, Hamakubo, Sakai, Kodama, Doi: "Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells." in: Biochemical and biophysical research communications, Vol. 389, Issue 3, pp. 501-5, (2009) (PubMed).
Pierre, Macdonald, Gray, Hendriksz, Preece, Chakrapani: "Prospective treatment in carnitine-acylcarnitine translocase deficiency." in: Journal of inherited metabolic disease, Vol. 30, Issue 5, pp. 815, (2007) (PubMed).
Aliases for SLC25A20 抗体
cactus (cact) 抗体 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (slc25a20) 抗体 solute carrier family 25 member 20 (SLC25A20) 抗体 solute carrier family 25 member 20 (Slc25a20) 抗体 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 L homeolog (slc25a20.L) 抗体 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 (Slc25a20) 抗体 5848 抗体 1110007P09Rik 抗体 BG:DS02740.15 抗体 C78826 抗体 cac 抗体 CAC 抗体 CACT 抗体 Cact 抗体 cact 抗体 CG5848 抗体 dif-1 抗体 dip6 抗体 DKFZp468F1219 抗体 Dmel\\CG5848 抗体 fs(2)ltoRN48 抗体 mCAC 抗体 n(2)k17003 抗体 PRKAR2A 抗体 SLC25A20 抗体 zgc:77760 抗体