OFD1 centriole and centriolar satellite protein
Dernière mise à jour 25 fév 2026
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La OFD1 gene provides instructions for making a protein whose function is not fully understood. It appears to play a critical role in the early development of many parts of the body, including the brain, face, limbs, and kidneys.
Normal function
La OFD1 gene provides instructions for making a protein whose function is not fully understood. It appears to play a critical role in the early development of many parts of the body, including the brain, face, limbs, and kidneys.
The OFD1 protein is located at the base of cilia, which are finger-like projections that stick out from the surface of cells. Cilia are involved in cell movement and in many different chemical signaling pathways. They play important roles in the development and function of many parts of the body. Researchers suspect that the OFD1 protein is essential for the normal formation of cilia.
Studies suggest that the OFD1 protein may have additional functions. In the earliest stages of development, it appears to be involved in determining the left-right axis (the imaginary line that separates the left and right sides of the body). The OFD1 protein is also found in the nucleus, although its function in this cell structure is unknown.
Conditions referring to this gene or chromosome
Other names
71-7A
CXorf5
JBTS10
MGC117039
MGC117040
OFD1_HUMAN
oral-facial-digital syndrome 1
SGBS2
Related patient information and medicines
Patient information leaflet
Vérifiez vos médicaments pour les interactions
Use this vérificateur d'interactions médicamenteuses à see whether your medicines, supplements, vitamins, foods, or certain health conditions may interact with each other. It can help you understand potential risks, avoid unwanted side effects, and decide when it’s important to speak to a pharmacist, GP, or other healthcare professional. The tool is.
Patient information leaflet
Alimentation saine
Healthy eating may help to prevent certain long-term (chronic) diseases tel que heart disease, stroke and diabetes. Eating red and processed meat has also been shown to increase the risk of stroke, heart disease and type ... For this reason, the UK Government's Scientific Advisory Committee on Nutrition (SACN) recommend that your intake of red and.
Patient information leaflet
scanner CT
Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the instructions given by your doctor or local hospital. What is a CT scan. A CT scan is a specialised X-ray test. It can give quite clear pictures of the inside of your body. In particular,.
Patient information leaflet
Grossesse multiple
Both mother and babies need extra monitoring during pregnancy as the risks are higher than in a singleton pregnancy. Cell division continues until each zygote has become a ball of cells which implants (attaches and embeds) into the lining of the womb and becomes an embryo. As the balls of cells implant into the wall of the womb (uterus), they meet.
Patient information leaflet
Puis-je prendre Amitriptyline et Esomeprazole ensemble ?
High intake of caffeine can worsen these side effects and may also in... Using other medicines Taking multiple medicines. Our Medicines Interaction Checker 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.
Patient information leaflet
Insuffisance cervicale et suture
Cervical insufficiency (sometimes called cervical incompetence) occurs when the neck of the womb (the cervix) softens, shortens and opens without n'importe quel other des symptômes of labour. This may be in the second trimester or early in the third, leading to premature delivery of the baby. This is to try to prevent late miscarriage or premature birth in women.
Lectures complémentaires et références
- OFD1 centriole and centriolar satellite protein; MedlinePlus, National Library of Medicine.
- Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Riess A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linne M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.
- Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet. 2006 Sep;120(2):171-8. doi: 10.1007/s00439-006-0210-5. Epub 2006 Jun 17.
- Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002.
- Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001 Mar;68(3):569-76. doi: 10.1086/318802. Epub 2001 Feb 13.
- Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dolle P, Franco B. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet. 2006 Jan;38(1):112-7. doi: 10.1038/ng1684. Epub 2005 Nov 27.
- Giorgio G, Alfieri M, Prattichizzo C, Zullo A, Cairo S, Franco B. Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. Mol Biol Cell. 2007 Nov;18(11):4397-404. doi: 10.1091/mbc.e07-03-0198. Epub 2007 Aug 29.
- Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224.
- Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.
- Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS, Feather SA. OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. J Am Soc Nephrol. 2004 Oct;15(10):2556-68. doi: 10.1097/01.ASN.0000140220.46477.5C.
- Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Heron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet. 2006 Jan;43(1):54-61. doi: 10.1136/jmg.2004.027672.
- Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frebourg T, Faivre L. Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888.
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.