Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
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.

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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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Update: Oct. 11, 2018