Nephrocystin-5 Polyclonal Antibody, 50ul PCR Series Mutations in PEX2 result in

Mutations in PEX2 result in one form of Zellweger syndrome and infantile Refsum disease

It also plays an important role in trafficking of T cells in thymus

This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation

Component of the SCF(BTRC) complex containing BTRC

Mutations in this gene cause cerebellar ataxia in humans

Nephrocystin-5 Polyclonal Antibody, 50ul PCR Series Mutations in PEX2 result inIQCB1 encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. IQ calmodulin binding motif containing protein 1 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. IQ calmodulin binding motif containing protein 1 is thought to play a role in ciliary function. Defects