Tuberin(Phospho Tyr1571) Polyclonal Antibody, 50ul Serum & Sample Tubes The non-functional allele of ACTN3

The non-functional allele of ACTN3 is associated with elite athlete status

and the encoded protein is required for B and T lymphocyte development

Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2

The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition

Tuberin(Phospho Tyr1571) Polyclonal Antibody, 50ul Serum & Sample Tubes The non-functional allele of ACTN3Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms.