heparan-alpha-glucosaminide N-acetyltransferase
Última atualização 18 de ago de 2020
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
A HGSNAT gene provides instructions for producing an enzyme called heparan-alpha-glucosaminide N-acetyltransferase (which is often shortened to N-acetyltransferase). This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. N-acetyltransferase is involved in the step-wise breakdown (degradation) of large molecules called glycosaminoglycans (GAGs). GAGs are composed of sugar molecules that are linked together to form a long string. To break down these large molecules, individual sugars are removed one at a time from one end of the molecule. N-acetyltransferase adds a molecule called an acetyl group to the sugar glucosamine in a subset of GAGs called heparan sulfate. This addition prepares the GAG for the next step in the degradation process.
Normal function
A HGSNAT gene provides instructions for producing an enzyme called heparan-alpha-glucosaminide N-acetyltransferase (which is often shortened to N-acetyltransferase). This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. N-acetyltransferase is involved in the step-wise breakdown (degradation) of large molecules called glycosaminoglycans (GAGs). GAGs are composed of sugar molecules that are linked together to form a long string. To break down these large molecules, individual sugars are removed one at a time from one end of the molecule. N-acetyltransferase adds a molecule called an acetyl group to the sugar glucosamine in a subset of GAGs called heparan sulfate. This addition prepares the GAG for the next step in the degradation process.
Conditions referring to this gene or chromosome
Other names
acetyl coenzyme A:alpha-glucosaminide N-acetyltransferase
DKFZp686G24175
FLJ22242
FLJ32731
HGNAT
HGNAT_HUMAN
TMEM76
transmembrane protein 76
Related patient information and medicines
Patient information leaflet
Uveíte
Uveíte is a general term describing inflamação of the part of the eye called the uveal tract. This consists of the iris, ciliary body and choroid - although uveitis can additionally involve other parts of the eye. Biological agents There are a number of new treatments for uvei... These include para resfriado called TNF alpha-blockers, such as.
Patient information leaflet
Síndrome das pernas inquietas
No treatment may be needed if symptom... Medication can ease symptoms if the condition is distressing. What is restless legs syndrome. Restless legs syndrome (RLS) é sometimes called Willis-Ekbom disease after the doctors who first described it. It is a condition where you have an urge to move your legs. This is usually caused by an uncomfortable.
Patient information leaflet
Mucolíticos
Both are available as capsules. Carbocisteína is also available as an oral liquid. Two other types of mucolytic are available to prescribe. They are called dornase alfa and mannitol. These medicines are inhaled but are usually only prescribed for people with cystic fibrosis. Children may need to take these medicines three... Dornase alfa is taken.
Patient information leaflet
Testes de função hepática
These substances are also called transferases. They are liver enzymes (proteins which help do the work of the liver) which are normally found inside liver cells rather than in the blood. ALT stands for alanine transaminase and is also called SGPT (serum glutamic-pyruvic transaminase). AST stands for aspartate transaminase and is also called SGOT.
Patient information leaflet
Próstata aumentada
Se symptoms become troublesome or distressing they can be improved by medicines or surgery. Sintomas de próstata aumentada A symptoms of an enlarged prostate are called lower urinary tract symptoms (LUTS). See the separate leaflet called Lower Urinary Tract Symptoms in Men for more details. LUTS can also be caused by other conditions. As the.
Patient information leaflet
Câncer testicular
Câncer testicular é a cancer that arises from a testicle (testis). Around half of all cases occur in men aged under 35 but testicular cancer rarely occurs before puberty. Another useful test i... The tumour markers commonly tested for are nível de alfa-fetoproteína (AFP), beta human chorionic gonadotrophin (beta-hCG), lactic dehydrogenase (LDH) and.
Leitura adicional e referências
- heparan-alpha-glucosaminide N-acetyltransferase; MedlinePlus, National Library of Medicine.
- Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet. 2006 Oct;79(4):738-44. doi: 10.1086/508068. Epub 2006 Aug 23.
- Feldhammer M, Durand S, Mrazova L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebicek M, Kmoch S, Pshezhetsky AV. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986.
- Feldhammer M, Durand S, Pshezhetsky AV. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One. 2009 Oct 13;4(10):e7434. doi: 10.1371/journal.pone.0007434.
- Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet. 2006 Nov;79(5):807-19. doi: 10.1086/508294. Epub 2006 Sep 8.
- Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab. 2008 Feb;93(2):104-11. doi: 10.1016/j.ymgme.2007.09.011. Epub 2007 Nov 19.
- Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.