IQ calmodulin-binding motif-containing protein 1 (IQCB1)

IQ calmodulin-binding motif-containing protein 1 (IQCB1), also called nephrocystin-5 (NPHP5), is a ubiquitously expressed ciliary protein encoded by the IQCB1 gene located on human chromosome 3q13.33[1][2]. It contains IQ domains for calmodulin binding and is essential for ciliogenesis, particularly in the development and maintenance of structures such as photoreceptor outer segments in the retina. Mutations in IQCB1 are causative for rare autosomal recessive ciliopathies, especially Senior-Løken syndrome, which combines nephronophthisis (a chronic kidney disorder) with early-onset retinal degeneration (Leber congenital amaurosis). Pathogenic IQCB1 variants disrupt photoreceptor structure and renal function. There are currently no therapies that target IQCB1 directly; its value is principally in genetic diagnosis and understanding the pathogenesis of cilia-related diseases[2][4][8].

Other names

NPHP5KIAA0036Nephrocystin-5SLSN5PIQOK/SW-cl.85p53 and DNA damage-regulated IQ motif proteinnephrocystin 5

Not applicable (no approved drugs targeting IQCB1)