CPLANE1
Description
The CPLANE1 (ciliogenesis and planar polarity effector complex subunit 1) is a protein-coding gene located on chromosome 5.
Ciliogenesis And Planar Polarity Effector 1 (CPLANE1) is a protein produced by the CPLANE1 gene in humans. It is involved in the formation of cilia (ciliogenesis) and the establishment of cell polarity, which is necessary for cells to move in a specific direction. CPLANE1 is thought to work with other proteins in a complex called the CPLANE complex, which regulates both ciliogenesis and planar polarity.
CPLANE1 plays a crucial role in ciliogenesis, the process of forming cilia, as demonstrated in a study published in PubMed (PMID: 25877302). It is also involved in establishing cell polarity, which is essential for directional cell migration. CPLANE1 is thought to function as part of the CPLANE complex, a group of proteins that work together to regulate ciliogenesis and planar polarity. Additionally, it is believed to contribute to the recruitment of peripheral IFT-A proteins to basal bodies, although this function is based on similarities to other proteins.
CPLANE1 is also known as C5orf42, Hug, JBTS17, OFD6.
Associated Diseases
- Orofaciodigital syndrome type 6
- Orofaciodigital syndrome VI
- Joubert syndrome
- Monomelic amyotrophy
- Joubert syndrome 17
