RPGR1 Rabbit Polyclonal Antibody, 100ul Antibodies Defects in this gene are

Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7)

The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors

thereby playing a role in cell migration and growth

This gene encodes a member of the peptidase T1A family| that is a 20S core alpha subunit

It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation

RPGR1 Rabbit Polyclonal Antibody, 100ul Antibodies Defects in this gene areThis gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness.