C12orf41 Proteins

Protein Information

The C12orf41 gene, also known as CFAP70 (Cilia and Flagella Associated Protein 70), is located on chromosome 12 and encodes a protein that is essential for the proper function of cilia and flagella. The CFAP70 protein plays a critical role in the assembly and maintenance of axonemal structures, which are core components of cilia and flagella. Cilia and flagella are vital for various cellular processes, including motility, fluid movement across cell surfaces, and signal transduction. Mutations in CFAP70 have been linked to primary ciliary dyskinesia (PCD), a genetic disorder characterized by chronic respiratory tract infections, abnormal situs (organ positioning), and infertility due to defective motility of cilia and flagella. CFAP70 is also involved in the regulation of dynein arms and radial spokes, which are necessary for the effective beating of cilia and flagella. Research into CFAP70 continues to uncover its multifaceted roles in cellular function and its potential implications in ciliopathies.

Synonyms

2310037I24Rik; B930009D17; C12orf41; Kansl2; KAT8 regulatory NSL complex subunit 2; non-specific lethal 2 homolog; NSL complex protein NSL2; NSL2