WD repeat domain 35
עודכן לאחרונה 8 May 2023
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ה WDR35 gene (also known as IFT121) provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells. Cilia participate in signaling pathways that transmit information within and between cells and are important for the development and function of many types of cells and tissues, including cells in the kidneys and liver and the light-sensitive tissue at the back of the eye (the retina). Cilia also play a role in the development of the bones, although the mechanism is not well understood.
Normal function
ה WDR35 gene (also known as IFT121) provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells. Cilia participate in signaling pathways that transmit information within and between cells and are important for the development and function of many types of cells and tissues, including cells in the kidneys and liver and the light-sensitive tissue at the back of the eye (the retina). Cilia also play a role in the development of the bones, although the mechanism is not well understood.
The movement of substances within cilia and similar structures called flagella is known as intraflagellar transport. This process is essential for the assembly and maintenance of these cell structures. During intraflagellar transport, cells use molecules called IFT particles to carry materials to and from the tips of cilia. Each IFT particle is made up of two groups of IFT proteins: complex A and complex B. The protein produced from the WDR35 gene forms part of IFT complex A (IFT-A). During intraflagellar transport, this complex carries materials from the tip to the base of cilia.
The IFT-A complex is essential for proper regulation of the Sonic Hedgehog signaling pathway, which is important for the growth and maturation (differentiation) of cells and the normal shaping (patterning) of many parts of the body, especially during embryonic development. The exact role of the complex in this pathway is unclear.
Conditions referring to this gene or chromosome
Other names
CED2
IFT121
IFTA1
intraflagellar transport protein 121 homolog
KIAA1336
MGC33196
naofen
WDR35_HUMAN
Related patient information and medicines
Patient information leaflet
פנאומוטורקס
ה פניאומוטורקס is sometimes called a "collapsed lung" and it describes the condition in which air has become trapped next to a lung. Many cases occur without warning, particularly in healthy young men. Some develop as a complication of a chest injury or a lung disease. The most common symptom is a sudden sharp chest pain followed by pains on.
Patient information leaflet
היפרפלזיה של רירית הרחם
There are two types. The cells are all normal, however, and are very unlikely to ever change to cancer. Over time, the overgrowth of cells may stop on its own, or may need treatment to do so. Atypical hyperplasia In this type, the cells are not normal (they are said to be atypical). This type of hyperplasia is more likely to become cancerous over.
Patient information leaflet
סוכרת והריון
Women who have had gestational diabetes are also at increased risk of developing diabetes in the future - it is recommended that all women who have had gestational diabetes have a blood test for diabetes once a year. Risk factors for gestational סוכרת Gestational סוכרת is more common in women who are over 35 when pregnant, women who are.
Patient information leaflet
אנזימים לבביים
אנזימים לבביים are substances released by the heart muscle when it is פצועים - for example, during a heart attack or a severe case of angina. A heart attack (myocardial infarction) can present in many ways, the most common of which is chest pain. Taking blood tests for heart enzymes can help medical professionals to diagnose a heart attack. What.
Patient information leaflet
תפליט פלאורלי
A pleural effusion is a collection of fluid next to the lung. There are various causes. The effusion may cause you to become breathless. The fluid can be drained if necessary. Treatment is mainly aimed at the underlying cause. What is a pleural effusion. A pleural effusion means that there is a build-up of fluid in the space between a lung and the.
Patient information leaflet
צהבת ילודים
Neonatal jaundice is very common in the first two weeks of a baby's life. It is usually harmless but may be due to a serious cause which needs treatment in hospital. Neonatal jaundice is more likely to have a serious cause if it is seen in the first 24 hours of life or doesn't disappear by 2 weeks of age. All babies with jaundice should be seen by.
קריאה נוספת והפניות
- WD repeat domain 35; MedlinePlus, National Library of Medicine.
- Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov;158A(11):2917-24. doi: 10.1002/ajmg.a.35608. Epub 2012 Sep 17.
- Liem KF Jr, Ashe A, He M, Satir P, Moran J, Beier D, Wicking C, Anderson KV. The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. J Cell Biol. 2012 Jun 11;197(6):789-800. doi: 10.1083/jcb.201110049.
- Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet. 2011 Apr 8;88(4):508-15. doi: 10.1016/j.ajhg.2011.03.015.
- Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. 2013 Sep 12 [updated 2022 Dec 15]. 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/NBK154653/
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