PDE6D Rabbit Polyclonal Antibody, 20ul Protein Analysis Mutations in TSC1 have been

Mutations in TSC1 have been associated with tuberous sclerosis

The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family

may be involved in antigen processing and the maturation of secretory proteins

tissue remodeling

PDE6D Rabbit Polyclonal Antibody, 20ul Protein Analysis Mutations in TSC1 have beenThis gene encodes the delta subunit of rod specific photoreceptor phosphodiesterase (PDE) a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane bound PDE. In addition to its role in the PDE complex the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome 22. Alternative