PEF1 Rabbit Polyclonal Antibody, 100ul Serum Loss of function mutations in

Loss of function mutations in SLC16A2 are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes

It is a mainly cytoplasmic protein that can translocate to the cell membrane after cell stimulation

and a C-terminal coiled-coil domain

Its substrates include the oxysterols 25-hydroxycholesterol

which are important in RNA binding and are known to be involved in RNA synthesis and metabolism

PEF1 Rabbit Polyclonal Antibody, 100ul Serum Loss of function mutations inThis gene encodes a calcium binding protein belonging to the penta EF hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.