SMD3 Polyclonal Antibody, 20ul Bio-Reaction Tube Mutations in this gene are

Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10)

The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin

Depletion leads to an increased number of stress fibers in smooth muscle cells through stabilization of actin fibers by phosphorylated myosin

a renal disease

SMD3 Polyclonal Antibody, 20ul Bio-Reaction Tube Mutations in this gene areThis gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre mRNA splicing. Alternative splicing results in multiple transcript variants.