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Proteintech
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Immunogen sequence: ALIMREKLI RLQSLYIDQF KRLQHLLKEK KRRYLHNRKV EHEALGSSLL TGPEGLLAKE RENLKRLKCL RRYRQRYGVE ALLHRQLKER RMLATDGAAQ QAHTTRSSQR CLAFVDDVRC SNQSLPMTRH CLTHICQDTN QVLFKCCQGS EEVPCNKPVP VSLSEDPCCP LHFQLPPQMY KPEQVLSVPD DLEAGPMDLY LSAAELQPTE SLPLEFSDDL DVVGDGMQCP PSPLLFDPSL TLEDHLVKEI AEDTVDILGQ MQMAGDGCRS QGSRNSEKAS APLSQSGLAT ANGKPEPTSI S (193-492 aa encoded by BC009746)
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: KAT8 regulatory NSL complex subunit 2; Non-specific lethal 2 homolog; NSL complex protein NSL2
基因别名: 2310037I24Rik; B930009D17; C12orf41; KANSL2; NSL2
UniProt ID: (Human) Q9H9L4, (Mouse) Q8BQR4
Entrez Gene ID: (Human) 54934, (Mouse) 69612