serine palmitoyltransferase long chain base subunit 1
Dernière mise à jour 18 Aug 2020
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes that play a role in many cell functions. The SPT enzyme initiates the first step of sphingolipid production, in which the molecules serine and palmitoyl CoA combine to form a molecule called ketodihydrosphingosine. Additional chemical reactions convert ketodihydrosphingosine into various types of sphingolipids. Within the cell, the SPT enzyme is mainly found on the endoplasmic reticulum, which is a structure involved in protein processing and transport.
Normal function
La SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes that play a role in many cell functions. The SPT enzyme initiates the first step of sphingolipid production, in which the molecules serine and palmitoyl CoA combine to form a molecule called ketodihydrosphingosine. Additional chemical reactions convert ketodihydrosphingosine into various types of sphingolipids. Within the cell, the SPT enzyme is mainly found on the endoplasmic reticulum, which is a structure involved in protein processing and transport.
Conditions referring to this gene or chromosome
Other names
hLCB1
LBC1
LCB1
long chain base biosynthesis protein 1
serine C-palmitoyltransferase
serine palmitoyltransferase subunit 1
serine palmitoyltransferase, long chain base subunit 1
serine-palmitoyl-CoA transferase 1
SPT1
SPTC1_HUMAN
SPTI
Related patient information and medicines
Patient information leaflet
néphropathie à IgA
IgA nephropathy is a condition in which a protein causes damage to the kidneys. The protein is called immunoglobulin A or IgA. Nephropathy means an illness that damages the kidney. The main job of the kidneys is to clear waste materials from the body and maintain a normal balance of fluids and chemicals in the body. The kidneys also have other.
%20vaccination/og.png)
Patient information leaflet
Vaccination contre le virus respiratoire syncytial (VRS)
The RSV vaccine helps protect babies and older people from the common infectious disease of the airways and lungs. Here we have information about the respiratory syncytial virus (RSV) vaccine and who should get it. What is the RSV vaccine. RSV is a common virus which causes lung infections (respiratory tract disease). An RSV infection can happen.
Patient information leaflet
Syndrome des antiphospholipides
Normally, the système immunitaire makes proteins called antibodies that are helpful and do jobs such as fighting infection. In APS, unhelpful antibodies are formed as well and these attack a normal substance called phospholipid (which is why the antibodies are called antiphospholipid). APS is called an autoimmune condition - when the body's normal.
Patient information leaflet
Dépression postnatale
About 1 in 10 mothers develop postnatal depression. Support and understanding from family, friends and sometimes from a professional such as a health visitor can help recovery. Other treatment options include psychological treatments such as cognitive behavioural therapy or antidepressant medicines. What is postnatal depression. Having a baby is a.
Patient information leaflet
Protéinurie
Proteins are molecules that are found in almost every part of the body, including in the blood. The kidneys normally have a filter which stops protein from entering the urine, except in very tiny amounts; however, kidney problems can cause higher levels of protein to be found in the urine. What is proteinuria. Proteinuria means that there is an.
Patient information leaflet
Hémorroïdes
Piles are swollen veins that can cause lumps inside and around your bottom (anus). They are very common, especially with age, pregnancy, or constipation. They develop when the small veins in the lining of the anus become swollen or irritated. These blood vessels can enlarge and fill with more blood than usual, causing the surrounding tissue to.
Lectures complémentaires et références
- serine palmitoyltransferase long chain base subunit 1; MedlinePlus, National Library of Medicine.
- Auer-Grumbach M, Bode H, Pieber TR, Schabhuttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, Hornemann T. Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. Eur J Med Genet. 2013 May;56(5):266-9. doi: 10.1016/j.ejmg.2013.02.002. Epub 2013 Feb 27.
- Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet. 2001 Mar;27(3):261-2. doi: 10.1038/85817.
- Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001 Mar;27(3):309-12. doi: 10.1038/85879.
- Hornemann T, Richard S, Rutti MF, Wei Y, von Eckardstein A. Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase. J Biol Chem. 2006 Dec 8;281(49):37275-81. doi: 10.1074/jbc.M608066200. Epub 2006 Oct 4.
- Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006 Feb;129(Pt 2):411-25. doi: 10.1093/brain/awh712. Epub 2005 Dec 19.
- Penno A, Reilly MM, Houlden H, Laura M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH Jr, von Eckardstein A, Hornemann T. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 2010 Apr 9;285(15):11178-87. doi: 10.1074/jbc.M109.092973. Epub 2010 Jan 22.
- Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Levy N, Timmerman V, Hornemann T, Janssens K. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Hum Mutat. 2011 Jun;32(6):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24.
- Wei J, Yerokun T, Leipelt M, Haynes CA, Radhakrishna H, Momin A, Kelly S, Park H, Wang E, Carton JM, Uhlinger DJ, Merrill AH Jr. Serine palmitoyltransferase subunit 1 is present in the endoplasmic reticulum, nucleus and focal adhesions, and functions in cell morphology. Biochim Biophys Acta. 2009 Aug;1791(8):746-56. doi: 10.1016/j.bbalip.2009.03.016. Epub 2009 Apr 9.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.