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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.

Genetests:

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
CEP104

References:

1.

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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

NCBI article

NCBI 9731 external link
6.

OMIM.ORG article

Omim 616690 external link
7.

Orphanet article

Orphanet ID 448865 external link
8.

Wikipedia article

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