Centrosomal protein, 290-KD
The gene CEP290 encodes nephrocystin-6 a centrosomal protein. Mutations cause various autosomal recessive disorders including nephronophtisis 6, Leber congenital amaurosis 10, Joubert syndrome 5, Meckel syndrome 4, Senior-Loken syndrome 6 and Bardet-Biedl syndrome 14.
Genetests:
Related Diseases:
References:
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Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
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2. |
Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
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3. |
OMIM.ORG article
Omim 610142
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4. |
NCBI article
NCBI 80184
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5. |
Orphanet article
Orphanet ID 119343
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6. |
Wikipedia article
Wikipedia EN (CEP290)
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Update: Aug. 14, 2020