tubulin alpha 1a
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 TUBA1A gene provides instructions for making a protein called alpha-tubulin (α-tubulin). This protein is part of the tubulin family of proteins that form and organize structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). They are composed of α-tubulin and a similar protein called beta-tubulin (β-tubulin) that is produced from a different gene. Microtubules are necessary for cell division and movement.
Normal function
A TUBA1A gene provides instructions for making a protein called alpha-tubulin (α-tubulin). This protein is part of the tubulin family of proteins that form and organize structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). They are composed of α-tubulin and a similar protein called beta-tubulin (β-tubulin) that is produced from a different gene. Microtubules are necessary for cell division and movement.
Most cells produce α-tubulin, but the protein is found in highest amounts in the developing brain. During brain development, α-tubulin partners with β-tubulin to form microtubules that move nerve cells (neurons) to their proper location (neuronal migration). Microtubules form scaffolding within the cell. The tubulin proteins that make up the microtubule are moved from one end of a microtubule to the other end. This protein transfer propels the microtubules in a specific direction, moving the cell.
Conditions referring to this gene or chromosome
Other names
B-ALPHA-1
TBA1A_HUMAN
TUBA3
tubulin alpha-1A chain
tubulin alpha-3 chain
tubulin B-alpha-1
tubulin, alpha 1a
tubulin, alpha, brain-specific
Related patient information and medicines
Patient information leaflet
Testes de função hepática
These would normally be done if an abnormality is found with the basic liver function tests described here, or if a specific problem is suspected. They might include: Virus tests - for example, for hepatitis A, B or C - to look for the ... Alpha-1 antitrypsin (a hormone involved in protecting liver and lung cells from injury). Abnormal liver.
Patient information leaflet
Triagem para síndrome de Down
A person with Down's syndrome pode usually be gravidezes reconhecidas by their typical features. It can also cause learning disability and there are certain medical problems that someone with Down's syndrome has an increased chance of developing. These include a congenital heart defect (that is, a heart problem that you are born with), vision problems or growth.
Patient information leaflet
Câncer testicular
Testicular cancer is 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 são alpha-fetoprotein (AFP), beta human chorionic gonadotrophin (beta-hCG), lactic dehydrogenase (LDH) and.
Patient information leaflet
Uveíte
Uveíte é inflammation of the uveal tract. The uveal tract is the name given to the part of your eye that is made up of: The iris : the part of your eye that gives it colour. The ciliary body : a small rin... Uveitis is not contagious, meaning you can’t catch it from someone else. It’s usually caused by inflammation inside the eye linked to.
Patient information leaflet
Sangue no sêmen
Hematospérmia means there is blood in the semen. Usually there are no other symptoms such as pain. In men under 40 years old it is usually harmless and resolves without any treatment. The haematospermia itself does not need any treatment. Medicines If you have persistent haematospermia without an identified cause then a type of medicação called a.
Patient information leaflet
Artrite reumatoide
O que é artrite reumatoide. Artrite reumatoide (AR) is a fairly common form of arthritis. (There are va... Treatment with a tumour necrosis factor (TNF) alpha inhibitor (adalimumab, certolizumab pegol, etanercept , golimumab, or infliximab), other biological DMARD (abatacept, sarilumab, or tocilizumab), or targeted synthetic DMARD.
Leitura adicional e referências
- tubulin alpha 1a; MedlinePlus, National Library of Medicine.
- Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug 26.
- Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Regal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W. TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 2011 Mar 15;76(11):988-92. doi: 10.1212/WNL.0b013e31821043f5.
- Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet. 2010 Jul 15;19(14):2817-27. doi: 10.1093/hmg/ddq182. Epub 2010 May 12.
- Tian G, Jaglin XH, Keays DA, Francis F, Chelly J, Cowan NJ. Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. Hum Mol Genet. 2010 Sep 15;19(18):3599-613. doi: 10.1093/hmg/ddq276. Epub 2010 Jul 5.
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.