dynein axonemal intermediate chain 1
Última actualización 10 Dec 2025
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
The DNAI1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex functions within cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Dynein produces the force needed for cilia to move.
Normal function
The DNAI1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex functions within cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Dynein produces the force needed for cilia to move.
Within the core of cilia (the axoneme), dynein complexes are part of structures known as inner dynein arms (IDAs) and outer dynein arms (ODAs) depending on their location. Coordinated movement of the dynein arms causes the entire axoneme to bend back and forth. IDAs and ODAs have different combinations of protein components (subunits) that are classified by weight as heavy, intermediate, or light chains. The DNAI1 gene provides instructions for making intermediate chain 1, which is found in ODAs. Other subunits are produced from different genes.
Conditions referring to this gene or chromosome
Otros nombres
dynein, axonemal, intermediate chain 1
dynein, axonemal, intermediate polypeptide 1
Related patient information and medicines
Patient information leaflet
Degeneración macular
Degeneración macular relacionada con la edad is the most common causa of sight impairment in those aged over 50. It causes a gradual loss of central vision, which is needed for detailed work and for things like reading and driving. Edge vision (peripheral vision) is not lost. Macular degeneration (also known as age-related macular degeneration) occurs when.
Patient information leaflet
Trombofilia
The body has a natural clotting process in the blood, which is altered in thrombophilia. Thrombophilia refers to a group of conditions where the blood clots more easily than normal. The body has a natural clotting process in the blood, which is altered in thrombophilia. It helps to stop bleeding if you have an injury such as a cut. When a blood.
Patient information leaflet
Trastornos de la glándula pituitaria
This leaflet gives a brief overview of the pituitary gland and el hormonas it makes. The pituitary gland is found at the base of the brain and is 'pea-sized'. The pituitary gland is an overall controller of a number of other glands in the body, overseeing the function of these organs through hormones. Some of the pituitary gland disorders.
Patient information leaflet
enfermedad de Crohn
enfermedad de Crohn es un condition that causes inflammation of the wall of the gut (gastrointestinal tract). Crohn's disease is a condition that causes inflammation of the wall of the gut (gastrointestinal tract). Crohn's disease is a lifelong condition with flare-ups from time to time. Crohn's disease is generally managed by a specialist.
Patient information leaflet
Rasgo de células falciformes
If you inherit a gene from one of your parents, called a sickle cell gene, you have a condition called sickle cell trait. If you inherit a sickle cell gene from both parents, you get a double dose of the sickle cell gene. This causes a condition called sickle cell disease (SCD). What is sickle cell trait. Sickle cell trait means having one gene.
Patient information leaflet
prueba del talón del recién nacido
Mothers of all newborn babies are offered testing for certain rare but serious health conditions by testing blood taken from the baby's heel. This is the blood spot screening programme and it is also known as the heel prick test. How is the blood test done. This is usually done by a health professional (usually a midwife or health visitor) during.
Lecturas adicionales y referencias
- dynein axonemal intermediate chain 1; MedlinePlus, National Library of Medicine.
- Escudier E, Duquesnoy P, Papon JF, Amselem S. Ciliary defects and genetics of primary ciliary dyskinesia. Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18.
- Failly M, Saitta A, Munoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL. DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration. 2008;76(2):198-204. doi: 10.1159/000128567. Epub 2008 Apr 23.
- Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562.
- Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clement A, Goossens M, Amselem S, Duriez B. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet. 1999 Dec;65(6):1508-19. doi: 10.1086/302683.
- Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioglu N, Erdem E, Fonnesu R, Gracci S, Grosse-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Korner RW, Kotz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nothe-Menchen T, Ozcelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Zietkiewicz E, Nielsen KG, Omran H. Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations. Eur Respir J. 2024 Aug 8;64(2):2301769. doi: 10.1183/13993003.01769-2023. Print 2024 Aug.
- Zariwala MA, Despotes KA, Davis SD. Primary Ciliary Dyskinesia. 2007 Jan 24 [updated 2025 May 22]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1122/
- Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20.
- Zietkiewicz E, Nitka B, Voelkel K, Skrzypczak U, Bukowy Z, Rutkiewicz E, Huminska K, Przystalowska H, Pogorzelski A, Witt M. Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Respir Res. 2010 Dec 8;11(1):174. doi: 10.1186/1465-9921-11-174.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.