TB10B Polyclonal Antibody, 100ul Plates & Dishes In one family with congenital

In one family with congenital myasthenic syndrome affecting limb-girdle muscles| a mutation in this gene was found

The encoded protein localizes to the nuclear matrix

This gene encodes a member of the eyes absent (EYA) family of proteins

It is very conserved in evolution

TB10B Polyclonal Antibody, 100ul Plates & Dishes In one family with congenitalSmall G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP bound state to the GDP bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009