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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.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 25



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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Srour M et al. (2015) Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

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Kumar KN et al. (1995) Cloning of the cDNA for a brain glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein.

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Satish Tammana TV et al. (2013) Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.

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NCBI article

NCBI 9731 external link

OMIM.ORG article

Omim 616690 external link

Orphanet article

Orphanet ID 448865 external link

Wikipedia article

Wikipedia EN (CEP104) external link
Update: Aug. 14, 2020
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