crumbs cell polarity complex component 1
עודכן לאחרונה 6 Oct 2022
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ה CRB1 gene provides instructions for making a protein that plays an essential role in normal vision. This protein is found in the brain and the retina, which is the specialized tissue at the back of the eye that detects light and colour.
Normal function
ה CRB1 gene provides instructions for making a protein that plays an essential role in normal vision. This protein is found in the brain and the retina, which is the specialized tissue at the back of the eye that detects light and colour.
In the retina, the CRB1 protein appears to be critical for the normal development of light-sensing cells called photoreceptors. Studies suggest that this protein is part of a group (complex) of proteins that help determine the structure and orientation of photoreceptors. The CRB1 protein may also be involved in forming connections between different types of cells in the retina.
Conditions referring to this gene or chromosome
Other names
CRUM1_HUMAN
crumbs family member 1, photoreceptor morphogenesis associated
crumbs homolog 1
crumbs homolog 1 (Drosophila)
LCA8
RP12
Related patient information and medicines
Patient information leaflet
מערכת החיסון
A person with a weak immune system might have difficulty fighting off infections. In autoimmune diseases the body is unable to tell what is its own and what is foreign, so it attacks itself. Autoimmune diseases can attack any part of the body - eg, type 1 diabetes (pancreas), multiple sclerosis (brain and nerves), systemic lupus erythematosus.
Patient information leaflet
פוליציטמיה ורה
Polycythaemia rubra vera (PRV) is a myeloproliferative disorder, which means the bone marrow makes too many blood cells. There is an abnormally high number of red blood cells in your blood. You may also have an abnormally high number of platelets and white blood cells. Blood cells, which can be seen under a microscope, make up about 40% of the.
Patient information leaflet
מיאלופיברוזיס
מיאלופיברוזיס מטופל? a condition affecting the bone marrow and its blood cell production. What is myelofibrosis. Myelofibrosis belongs to a group of diseases called myeloproliferative disorders. Myelofibrosis is a serious bone marrow disorder that disrupts your body's normal production of blood cells. This leads to reduced levels of: Red blood cells.
Patient information leaflet
השתלת תאי גזע
ה השתלת תאי גזע is where blood stem cells (the cells produced by the bone marrow to turn into different types of blood cells) are put back into your body when your bone marrow has been destroyed and cannot make stem cells itself. The bone marrow can be destroyed by diseases such as cancer, chemotherapy or radiotherapy. It is used to.
Patient information leaflet
לוקמיה לימפובלסטית חריפה
ה immature cells are called lymphoblasts. There are various subtypes of ALL. For example, the abnormal lymphoblasts can be immature B or T lymphocytes. The abnormal lymphoblasts continue to divide and multiply but do not mature into proper lymphocytes. Typically, ALL develops quite quickly (acutely) and rapidly becomes worse (over a few weeks or.
Patient information leaflet
גידול וילמס
A Wilms' tumour מטופל? a type of kidney cancer that usually affects young children. Wilms' tumours can appear in older children and adults but this is very rare. A Wilms' tumour is also known as a nephroblastoma Wilm's tumour is the most common type of kidney cancer in children but is very rare. About 80 children are diagnosed with a Wilms' tumour.
קריאה נוספת והפניות
- crumbs cell polarity complex component 1; MedlinePlus, National Library of Medicine.
- Antropoli A, Arrigo A, Pili L, Bianco L, Berni A, Saladino A, Bandello F, Battaglia Parodi M. Pigmented paravenous chorioretinal atrophy: Updated scenario. Eur J Ophthalmol. 2024 Jul;34(4):941-951. doi: 10.1177/11206721231199118. Epub 2023 Sep 5.
- Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M. CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. Am J Ophthalmol. 2023 Feb;246:107-121. doi: 10.1016/j.ajo.2022.09.002. Epub 2022 Sep 12.
- den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093.
- den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 2001 Jul;69(1):198-203. doi: 10.1086/321263. Epub 2001 May 24.
- den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1.
- den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848.
- Gosens I, den Hollander AI, Cremers FP, Roepman R. Composition and function of the Crumbs protein complex in the mammalian retina. Exp Eye Res. 2008 May;86(5):713-26. doi: 10.1016/j.exer.2008.02.005. Epub 2008 Feb 26.
- Jacobson SG, Cideciyan AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet. 2003 May 1;12(9):1073-8. doi: 10.1093/hmg/ddg117.
- Kumaran N, Pennesi ME, Yang P, Trzupek KM, Michaelides M. Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. 2018 Oct 4 [updated 2025 Dec 4]. 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/NBK531510/
- Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P, Heon E, Levin AV, Grover S, Rosenow JR, Kopp KK, Sheffield VC, Stone EM. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol. 2001 Mar;119(3):415-20. doi: 10.1001/archopht.119.3.415.
- Richard M, Roepman R, Aartsen WM, van Rossum AG, den Hollander AI, Knust E, Wijnholds J, Cremers FP. Towards understanding CRUMBS function in retinal dystrophies. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R235-43. doi: 10.1093/hmg/ddl195.
- Saberi M, Golchehre Z, Karamzade A, Entezam M, Eshaghkhani Y, Alavinejad E, Khojasteh Jafari H, Keramatipour M. CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum. Iran Biomed J. 2019 Sep;23(5):362-8. doi: 10.29252/.23.5.362. Epub 2019 May 19.
- van de Pavert SA, Kantardzhieva A, Malysheva A, Meuleman J, Versteeg I, Levelt C, Klooster J, Geiger S, Seeliger MW, Rashbass P, Le Bivic A, Wijnholds J. Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. J Cell Sci. 2004 Aug 15;117(Pt 18):4169-77. doi: 10.1242/jcs.01301.
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