Centrosome and spindle pole-associated protein 1
The CSPP1 gene encodes a protein that is involved in cell division spindle and cilia formation. Mutations cause autosomal recessive Joubert syndrome 21.
Genetests:
Related Diseases:
References:
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Shaheen R et al. (2014) Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
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2. |
Akizu N et al. (2014) Mutations in CSPP1 lead to classical Joubert syndrome.
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3. |
Tuz K et al. (2014) Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
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Patzke S et al. (2005) Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization.
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5. |
Patzke S et al. (2006) CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.
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6. |
NCBI article
NCBI 79848
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7. |
OMIM.ORG article
Omim 611654
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8. |
Orphanet article
Orphanet ID 390741
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Update: Aug. 14, 2020