solute carrier family 25 member 19
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Der SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. Thiamine pyrophosphate is involved in the functioning of a group of mitochondrial enzymes called the alpha-ketoglutarate dehydrogenase complex. This complex acts on a compound called alpha-ketoglutaric acid as part of an important series of reactions known as the citric acid cycle or Krebs cycle. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development.
Normal function
Der SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. Thiamine pyrophosphate is involved in the functioning of a group of mitochondrial enzymes called the alpha-ketoglutarate dehydrogenase complex. This complex acts on a compound called alpha-ketoglutaric acid as part of an important series of reactions known as the citric acid cycle or Krebs cycle. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development.
Conditions referring to this gene or chromosome
Other names
DNC
DNC_HUMAN
MCPHA
mitochondrial deoxynucleotide carrier
mitochondrial uncoupling protein 1
MUP1
solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
solute carrier family 25, member 19
TPC
Related patient information and medicines
Patient information leaflet
Zystische Fibrose
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. Cystic fibrosis is an autosomal recessive disorder. This means that in order to develop cystic fibrosis you need to inher... If you inherit only one cystic fibrosis gene, you are called a.
Patient information leaflet
Hämochromatose
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. The main treat... Because of the risk of developing a serious complication such as cirrhosis, treatment to remove iron buildup from the body is very important even if there.
Patient information leaflet
Hereditäre Sphärozytose
Hereditary spherocytosis (HS) ist 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
Polyzystische Nierenerkrankung
Polyzystische Nierenerkrankung is. This means that one or more of your genes is faulty, which results in you making many cysts in the kidneys. There are different types of polycystic kidney disease: Autosoma... Although people with PKD often develop kidney failure (end-stage kidney disease) between ages 55 to 65 years, some people with PKD have a mild.
Patient information leaflet
Planung, schwanger zu werden
Folic acid supplements F olic acid tablets (supplements) should be started as soon as contraception is stopped when. It should ideally be continued from at least one month before becoming pregnant until at least the end of the 12th week of pregnancy. This is important for all women, even those who are healthy and have a good diet. It is important.
Patient information leaflet
Duchenne-Muskeldystrophie
. 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;.
Weiterführende Lektüre und Referenzen
- solute carrier family 25 member 19; MedlinePlus, National Library of Medicine.
- Dolce V, Fiermonte G, Runswick MJ, Palmieri F, Walker JE. The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2284-8. doi: 10.1073/pnas.031430998. Epub 2001 Feb 20.
- Iacobazzi V, Ventura M, Fiermonte G, Prezioso G, Rocchi M, Palmieri F. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC). Cytogenet Cell Genet. 2001;93(1-2):40-2. doi: 10.1159/000056945.
- Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL, Chen A, Castegna A, Verhoeven N, Mathews CK, Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A. 2006 Oct 24;103(43):15927-32. doi: 10.1073/pnas.0607661103. Epub 2006 Oct 11.
- Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet. 2002 Sep;32(1):175-9. doi: 10.1038/ng948. Epub 2002 Aug 19.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Nov 2007 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.