Hamartin Polyclonal Antibody, 100ul In vitro Assessment Chromosomal translocation of this locus

Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias

and are associated with moderate to severe congenital hypothyroidism

This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes

which are similar proteins

Hamartin Polyclonal Antibody, 100ul In vitro Assessment Chromosomal translocation of this locusTSC1 (tuberous sclerosis 1) encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in TSC1 have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants.