Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 15
CEP41

References:

1.

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

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2.

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

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Update: Sept. 26, 2018