RPGF6 Polyclonal Antibody, 100ul Cell fragmentation and collection Mutations in RAB3GAP2 are associated

Mutations in RAB3GAP2 are associated with Martsolf syndrome

The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation

CYP11A1 encodes a member of the cytochrome P450 superfamily of enzymes

Mutations in this gene are associated with septooptic dysplasia

Additional isoforms have also been shown to result from the use of alternate translation initiation codons

RPGF6 Polyclonal Antibody, 100ul Cell fragmentation and collection Mutations in RAB3GAP2 are associatedGuanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M Ras GTPases. Does not interact with cAMP.,PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.,Contains 1 cyclic nucleotide binding domain.,Contains 1 N terminal Ras GEF domain.,Contains 1 PDZ (DHR) domain.,Contains 1 Ras associating domain.,Contains 1 Ras GEF domain.,subcellular location: Upon binding to M Ras, it translocates to the plasma membrane.,subunit: Interacts with the