IQCB1 Antibody – Rabbit

This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

IQCB1: Involved in ciliogenesis. Defects in IQCB1 are the cause of Senior-Loken syndrome type 5 (SLSN5). SLSN is a renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. 3 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 3q13.33|3q21.1

Cellular Component: nucleoplasm; microtubule cytoskeleton; centrosome; intercellular bridge; photoreceptor outer segment; cytosol; photoreceptor connecting cilium

Molecular Function: calmodulin binding; protein binding; enzyme binding

Biological Process: organelle organization and biogenesis; photoreceptor cell maintenance; cilium biogenesis; maintenance of organ identity

Disease: Senior-loken Syndrome 5