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:
Related Diseases:
References:
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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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Update: Aug. 14, 2020