RPGR1 Rabbit Polyclonal Antibody, 20ul General Lab Use Mutations of this gene cause

Mutations of this gene cause carboxylesterase 1 deficiency

which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature

COMT is found in two forms in tissues

and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors

stabilizes p53/TP53 by affecting its interaction with ubiquitin ligase MDM2 (PubMed: 25732823)

RPGR1 Rabbit Polyclonal Antibody, 20ul General Lab Use Mutations of this gene causeThis 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.