MBIP1 Polyclonal Antibody, 50ul miRNA / siRNA Synthesis Disease-associated mutations tend to be

Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product

and is a different protein that the peripherin found in photoreceptors

The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12

Defects in this gene are also one of the causes of congenital stationary night blindness

3-dehydroacyl-CoA + NADPH

MBIP1 Polyclonal Antibody, 50ul miRNA / siRNA Synthesis Disease-associated mutations tend to beInhibits the MAP3K12 activity to induce the activation of the JNK SAPK pathway.,subcellular location: Shows a cytoplasmic localization when co expressed with MAP3K12.,tissue specificity: Ubiquitous. High expression seen in the heart and lung.,