Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CEP41 gene encodes a protein that is found colocalized with microtubules. It plays a role in cilia function. Mutations cause autosomal recessive Joubert syndrome 15.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 
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| 2. |
Yamada T et al. (2002) The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.
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| 3. |
NCBI article NCBI 95681
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| 4. |
OMIM.ORG article Omim 610523
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| 5. |
Orphanet article Orphanet ID 292992
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