NUD15 Rabbit Polyclonal Antibody, 20ul Pipette Holder Mutations in this gene cause

Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II

Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens

The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes

|PTM:Autophosphorylated on Ser-377| as part of the activation process

However| it lacks the thioredoxin motif characteristic of this family| suggesting that this protein does not function as a disulfide isomerase

NUD15 Rabbit Polyclonal Antibody, 20ul Pipette Holder Mutations in this gene cause