TSP3 Polyclonal Antibody, 100ul Immunology Mutations in this gene are

Mutations in this gene are associated with ataxia telangiectasia

The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box)| which function in phosphorylation-dependent ubiquitination

subunit:The cytoplasmic C-terminal region binds to CASK

Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone

Two alternatively spliced variants encoding distinct isoform

TSP3 Polyclonal Antibody, 100ul Immunology Mutations in this gene areThe protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell to cell and cell to matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non coding transcript variants.