Centrosomal protein of 104 kDa
The CEP104 gene encodes a centrosomal protein that is involved in ciliogenesis and cilia tip formation. Mutations cause autosomal recessive Joubert syndrome 25.
Genetests:
Related Diseases:
References:
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Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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2. |
Srour M et al. (2015) Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
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3. |
Kumar KN et al. (1995) Cloning of the cDNA for a brain glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein.
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4. |
Satish Tammana TV et al. (2013) Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.
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5. |
NCBI article
NCBI 9731
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6. |
OMIM.ORG article
Omim 616690
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7. |
Orphanet article
Orphanet ID 448865
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8. |
Wikipedia article
Wikipedia EN (CEP104)
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Update: Aug. 14, 2020