pogo transposable element derived with ZNF domain
Última atualização 19 Apr 2023
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
A POGZ gene provides instructions for making a protein that is found in the cell nucleus. The POGZ protein is part of a group known as zinc finger proteins, which contain one or more short regions called zinc finger domains. These regions include a specific pattern of protein building blocks (amino acids) and one or more charged atoms of zinc (zinc ions). The folded configuration of the zinc finger domain stabilizes the protein and allows it to attach (bind) to other molecules.
Normal function
A POGZ gene provides instructions for making a protein that is found in the cell nucleus. The POGZ protein is part of a group known as zinc finger proteins, which contain one or more short regions called zinc finger domains. These regions include a specific pattern of protein building blocks (amino acids) and one or more charged atoms of zinc (zinc ions). The folded configuration of the zinc finger domain stabilizes the protein and allows it to attach (bind) to other molecules.
In the cell nucleus, the POGZ protein attaches (binds) to chromatin, which is the network of DNA and proteins that packages DNA into chromosomes. Binding of the POGZ protein is part of the process that changes the structure of chromatin (chromatin remodeling) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene activity (expression) is regulated; when DNA is tightly packed gene expression is lower than when DNA is loosely packed. Regulation of gene expression by the POGZ protein is thought to be important to brain development, but the specific function of POGZ in the brain is not well understood.
Conditions referring to this gene or chromosome
Other names
KIAA0461
MRD37
putative protein product of Nbla00003
WHSUS
zinc finger protein 280E
zinc finger protein 635
ZNF280E
ZNF635
ZNF635m
Related patient information and medicines
Patient information leaflet
Posso tomar Furosemida e Joint assurance juntos?
Tomar furosemide with Joint Assurance (which contains glucosamine and chondroitin) may increase the risk of bruising or bleeding if you are also taking blood-thinning medication. Additionally, glucosamine can sometimes affect blood sugar levels, which may interfere with how well furosemide works for certain patients. Why this happens Glucosamine.
Patient information leaflet
Posso tomar ácido fólico e glucosamina juntos?
Chronic alcohol consumption is a common cause of folate deficiency. Using other medicines Taking multiple medicines. Our Verificador de Interações de Medicamentos helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to do about.
Patient information leaflet
Posso tomar Glucosamina e Vitamina B2 juntos?
Taking these two supplements together is generally considered safe. Why this happens Glucosamine and vitamin B2 are processed by the body through different pathways. Glucosamine is an amino sugar used by the body to build cartilage, while vitamin B2 is a water-soluble vitamin involved in energy production. They do not interfere with each other's.
Patient information leaflet
Posso tomar Glucosamina e Vitamina C juntos?
Simply search for your medicines to see potential interactions and w... Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute for professional medical advice. Always consult your GP, pharmacist, or another qualified healthcare professional before making decisions about your medications..
Patient information leaflet
Posso tomar Glucosamina e Vitamina B12 juntos?
It is generally considered ... Why this happens Glucosamine and vitamin B12 are processed by the body through different pathways. Glucosamine is an amino sugar used by the body to build cartilage, while vitamin B12 is a water-soluble vitamin involved in nerve function and red blood cell production. They do not interfere with each other's.
Patient information leaflet
Posso tomar Glucosamina e Magnésio juntos?
Ou... Simply search for your medicines to see potential interactions and what to do about them. Aviso Legal This information is for general educational purposes only and should not be relied upon as a substitute for professional medical advice. Always consult your GP, pharmacist, or another qualified healthcare professional before making decisions.
Leitura adicional e referências
- pogo transposable element derived with ZNF domain; MedlinePlus, National Library of Medicine.
- Dentici ML, Niceta M, Pantaleoni F, Barresi S, Bencivenga P, Dallapiccola B, Digilio MC, Tartaglia M. Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Am J Med Genet A. 2017 Jul;173(7):1965-1969. doi: 10.1002/ajmg.a.38255. Epub 2017 May 7.
- Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N. A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. J Hum Genet. 2015 May;60(5):277-9. doi: 10.1038/jhg.2015.13. Epub 2015 Feb 19.
- Matsumura K, Nakazawa T, Nagayasu K, Gotoda-Nishimura N, Kasai A, Hayata-Takano A, Shintani N, Yamamori H, Yasuda Y, Hashimoto R, Hashimoto H. De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ. J Mol Psychiatry. 2016 Apr 21;4:1. doi: 10.1186/s40303-016-0016-x. eCollection 2016.
- Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjold M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004.
- Tan B, Zou Y, Zhang Y, Zhang R, Ou J, Shen Y, Zhao J, Luo X, Guo J, Zeng L, Hu Y, Zheng Y, Pan Q, Liang D, Wu L. A novel de novo POGZ mutation in a patient with intellectual disability. J Hum Genet. 2016 Apr;61(4):357-9. doi: 10.1038/jhg.2015.156. Epub 2016 Jan 14.
- Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE. De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun. 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316.
- White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 6;8(1):3. doi: 10.1186/s13073-015-0253-0.
- Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M, Cristian I, Wheeler PG, Crain C, Zand D, Weinstein V, Vernon HJ, McClellan R, Krishnamurthy V, Vitazka P, Millan F, Chung WK. De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000455. doi: 10.1101/mcs.a000455.
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.