Reviewed August 2010
What is the official name of the CEP290 gene?
The official name of this gene is “centrosomal protein 290kDa.”
CEP290 is the gene's official symbol. The CEP290 gene is also known by other names, listed below.
What is the normal function of the CEP290 gene?
The CEP290 gene provides instructions for making a protein that is present in many types of cells. Although this protein's function is not well understood, studies suggest that it plays an important role in cell structures called centrosomes and cilia. Centrosomes are involved in cell division and the assembly of microtubules, which are proteins that transport materials in cells and help the cell maintain its shape. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Cilia are involved in cell movement and many different chemical signaling pathways. They are also necessary for the perception of sensory input (such as vision, hearing, and smell).
How are changes in the CEP290 gene related to health conditions?
- Leber congenital amaurosis - caused by mutations in the CEP290 gene
At least 35 mutations in the CEP290 gene have been found to cause Leber congenital amaurosis. Mutations in this gene account for 15 to 22 percent of all cases of this condition.
A particular genetic change, written as 2991+1655A>G, is the most common CEP290 gene mutation associated with Leber congenital amaurosis. This mutation reduces the production of functional CEP290 protein to very low levels in cells. Other genetic changes responsible for this disorder result in the production of abnormally short, nonfunctional versions of the CEP290 protein.
It is unclear how mutations in the CEP290 gene cause the characteristic features of Leber congenital amaurosis. A shortage of the CEP290 protein clearly affects the development of the retina, which is the specialized tissue at the back of the eye that detects light and color. Light-sensing cells (photoreceptors) in the retina contain cilia, which are essential for normal vision. Abnormalities involving these cilia may lead to the severe, early visual impairment characteristic of Leber congenital amaurosis.
- other disorders - caused by mutations in the CEP290 gene
Several dozen mutations in the CEP290 gene have been identified in other syndromes associated with abnormal cilia. These conditions, which are known as ciliopathies, include Joubert syndrome, Meckel syndrome, Senior-Løken syndrome, and Bardet-Biedl syndrome. The features of these disorders overlap significantly. They each affect multiple organ systems, most commonly the brain and spinal cord (central nervous system), retina, and kidneys. Meckel syndrome is typically the most severe of the CEP290-associated ciliopathies; affected individuals usually die before or shortly after birth.
The CEP290 gene mutations responsible for these disorders lead to the production of an abnormally short version of the CEP290 protein. The abnormal protein likely disrupts cilia function in many different parts of the body. However, it is unclear how mutations in this single gene can cause multiple disorders. Researchers speculate that changes in other genes, particularly genes involved in cilia function, may contribute to the varied signs and symptoms of these conditions.
Where is the CEP290 gene located?
Cytogenetic Location: 12q21.32
Molecular Location on chromosome 12: base pairs 88,442,789 to 88,535,992
The CEP290 gene is located on the long (q) arm of chromosome 12 at position 21.32.
More precisely, the CEP290 gene is located from base pair 88,442,789 to base pair 88,535,992 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about CEP290?
You and your healthcare professional may find the following resources about CEP290 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((CEP290%5BTIAB%5D)%20OR%20(NPHP6%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- CENTROSOMAL PROTEIN, 290-KD (http://omim.org/entry/610142)
- JOUBERT SYNDROME 5 (http://omim.org/entry/610188)
- MECKEL SYNDROME, TYPE 4 (http://omim.org/entry/611134)
- SENIOR-LOKEN SYNDROME 6 (http://omim.org/entry/610189)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/80184)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=80184)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=29021)
What other names do people use for the CEP290 gene or gene products?
- cancer/testis antigen 87
- centrosomal protein of 290 kDa
- CTCL tumor antigen se2-2
- monoclonal antibody 3H11 antigen
- POC3 centriolar protein homolog
- prostate cancer antigen T21
- tumor antigen se2-2
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding CEP290?
cell division ;
central nervous system ;
monoclonal antibody ;
nervous system ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet. 2007 Jul;81(1):170-9. Epub 2007 Jun 4. (http://www.ncbi.nlm.nih.gov/pubmed/17564974?dopt=Abstract)
- Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group, Valente EM, Gleeson JG. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. Epub 2007 May 18. (http://www.ncbi.nlm.nih.gov/pubmed/17564967?dopt=Abstract)
- den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006 Sep;79(3):556-61. Epub 2006 Jul 11. (http://www.ncbi.nlm.nih.gov/pubmed/16909394?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/80184)
- Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat. 2008 Jan;29(1):45-52. (http://www.ncbi.nlm.nih.gov/pubmed/17705300?dopt=Abstract)
- Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6. (http://www.ncbi.nlm.nih.gov/pubmed/17617513?dopt=Abstract)
- Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. Erratum in: Nat Genet. 2008 Jul;40(7):927. Al-Fadhel, Majid [corrected to Alfadhel, Majid]. (http://www.ncbi.nlm.nih.gov/pubmed/18327255?dopt=Abstract)
- Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT. Focus on molecules: centrosomal protein 290 (CEP290). Exp Eye Res. 2011 May;92(5):316-7. doi: 10.1016/j.exer.2010.05.009. Epub 2010 May 20. (http://www.ncbi.nlm.nih.gov/pubmed/20493186?dopt=Abstract)
- Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2007 Apr;28(4):416. (http://www.ncbi.nlm.nih.gov/pubmed/17345604?dopt=Abstract)
- Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006 Jun;38(6):674-81. Epub 2006 May 7. (http://www.ncbi.nlm.nih.gov/pubmed/16682973?dopt=Abstract)
- Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. (http://www.ncbi.nlm.nih.gov/pubmed/19764032?dopt=Abstract)
- Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group, Bertini E, Dallapiccola B, Gleeson JG. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006 Jun;38(6):623-5. Epub 2006 May 7. (http://www.ncbi.nlm.nih.gov/pubmed/16682970?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.