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Target intelligence / Profile preview
Centrosomal protein 126 (CEP126)
- Target
- CEP126
- Molecular classification
- Other (Centrosomal protein)
01
Overview
**Centrosomal protein 126 (CEP126)** is a centrosome-associated protein encoded by the CEP126 gene (also called KIAA1377) located on human chromosome 11[1][2][6]. It is involved in organizing microtubules, mitotic spindle organization, and the assembly of the primary cilium[1][2][7]. Protein localizes to the centrosome, ciliary base, and midbody, and is necessary for proper cytokinesis and cellular architecture[1][7]. Mutations in CEP126 are associated with conditions such as monomelic amyotrophy and Leber congenital amaurosis 15, but there is no current evidence that it acts as a therapeutic drug target, and no drugs are known to directly interact with this protein[1][2][3][4].
- Other names
- KIAA1377centrosomal protein of 126 kDaCEP126centrosomal protein 126kDa
02
Biological functions
Cilium assemblyCytoplasmic microtubule organizationMitotic spindle organizationCytokinesisPrimary cilium formation
03
Disease associations
Monomelic amyotrophyLeber congenital amaurosis 15 (gene/disease associations)
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