Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Centrosomal protein of 41 kDa

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.

Genetests:

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

Related Diseases:

Joubert syndrome 15
CEP41

References:

1.

Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

external link
2.

Yamada T et al. (2002) The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.

external link
3.

NCBI article

NCBI 95681 external link
4.

OMIM.ORG article

Omim 610523 external link
5.

Orphanet article

Orphanet ID 292992 external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues