solute carrier family 22 member 5
עודכן לאחרונה 27 נובמבר 2023
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
The SLC22A5 gene provides instructions for making a protein called OCTN2 that is found in the heart, liver, muscles, kidneys, and other tissues. This protein is positioned within the cell membrane, where it transports a substance known as carnitine into the cell. Carnitine is mainly obtained from food and is needed to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods without food (fasting), fatty acids become the most important energy source for the heart and other muscles.
Normal function
The SLC22A5 gene provides instructions for making a protein called OCTN2 that is found in the heart, liver, muscles, kidneys, and other tissues. This protein is positioned within the cell membrane, where it transports a substance known as carnitine into the cell. Carnitine is mainly obtained from food and is needed to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods without food (fasting), fatty acids become the most important energy source for the heart and other muscles.
Conditions referring to this gene or chromosome
Other names
CDSP
high-affinity sodium dependent carnitine cotransporter
novel organic cation transporter 2
OCTN2
organic cation transporter 5
organic cation/carnitine transporter 2
S22A5_HUMAN
SCD
solute carrier family 22 (organic cation transporter), member 5
solute carrier family 22 (organic cation/carnitine transporter), member 5
Related patient information and medicines
Patient information leaflet
בדיקות גנטיות
Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Diagnostic testing Diagnosti... Carrier testing Carrier testing is used to identify people who carry one copy of a gene mutation (a genetic change) that, when present in two copies, causes a genetic.
Patient information leaflet
המוכרומטוזיס
Haemochromatosis is an inherited (genetic) disorder which causes the body to absorb too much iron from the diet. This excess iron causes damage to organs in which it builds up. Because o... Causes of haemochromatosis Haemochromatosis is a genetic condition. It is passed on through families through codes inside cells called genes. Approximately 1.
Patient information leaflet
ספרוציטוזיס תורשתי
Hereditary spherocytosis (HS) מטופל? an inherited condition of red blood cells. The disease can be mild and go unrecognised in some people. In others there may be severe anaemia requiring regular blood transfusions. Some people with hereditary spherocytosis may be offered surgery to remove their spleen. This usually helps the condition, but increases.
Patient information leaflet
מחלת וילסון
It is a rare. It is named after Dr Samuel Wilson who first described the disorder in 1912. When the copper storage capacity of the liver cells is exhausted, the copper spills into the bloodstream and deposits copper in o... How is Wilson's disease inherited. מחלת וילסון מטופל? an autosomal recessive disorder. This means that, in order to develop.
Patient information leaflet
סיסטיק פיברוזיס
What causes cystic fibrosis. Cystic fibrosis is a genetic disorder. A genetic disorder is one that can be passed on from your parents through your genes. How is cystic fibrosis inherited. סיסטיק פיברוזיס מטופל? an autosomal recessive disorder. This means that in order to develop cystic fibrosis you need to inherit two cystic fibrosis genes, one from.
Patient information leaflet
דושן ניוון שרירים
. Each person inherits a set of genes from their father and another set from their mother. The genes have been copied from the parents' cells into the child's cells. Genes are found on 'chromosomes', rather like houses on a street. The DMD gene is located on a chromosome called the X chromosome. Boys have one X chromosome and one Y chromosome;.
קריאה נוספת והפניות
- solute carrier family 22 member 5; MedlinePlus, National Library of Medicine.
- Amat di San Filippo C, Longo N. Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. J Biol Chem. 2004 Feb 20;279(8):7247-53. doi: 10.1074/jbc.M309171200. Epub 2003 Dec 9.
- Amat di San Filippo C, Wang Y, Longo N. Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency. J Biol Chem. 2003 Nov 28;278(48):47776-84. doi: 10.1074/jbc.M307911200. Epub 2003 Sep 23.
- Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency. Hum Mutat. 2019 Oct;40(10):1899-1904. doi: 10.1002/humu.23839. Epub 2019 Jul 3.
- Inano A, Sai Y, Kato Y, Tamai I, Ishiguro M, Tsuji A. Functional regions of organic cation/carnitine transporter OCTN2 (SLC22A5): roles in carnitine recognition. Drug Metab Pharmacokinet. 2004 Jun;19(3):180-9. doi: 10.2133/dmpk.19.180.
- Koepsell H, Endou H. The SLC22 drug transporter family. Pflugers Arch. 2004 Feb;447(5):666-76. doi: 10.1007/s00424-003-1089-9. Epub 2003 Jul 19.
- Lahjouji K, Mitchell GA, Qureshi IA. Carnitine transport by organic cation transporters and systemic carnitine deficiency. Mol Genet Metab. 2001 Aug;73(4):287-97. doi: 10.1006/mgme.2001.3207.
- Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ. Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311.
- Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 1999 Jan;21(1):91-4. doi: 10.1038/5030.
- Tein I. Carnitine transport: pathophysiology and metabolism of known molecular defects. J Inherit Metab Dis. 2003;26(2-3):147-69. doi: 10.1023/a:1024481016187.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.