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 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.

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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 [^]
4.

OMIM.ORG article

Omim 610523 [^]
5.

Orphanet article

Orphanet ID 292992 [^]
Update: April 29, 2019