Rhodopsin Polyclonal Antibody, 100ul[BT-AP07833] Electronic Pipette Sulfite oxidase deficiency results in

Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age

The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport

the complex also influences the Golgi structural integrity

A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2

s an activator of NLRP3 inflammasome assembly

Rhodopsin Polyclonal Antibody, 100ul[BT-AP07833] Electronic Pipette Sulfite oxidase deficiency results inRetinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X linked recessive disorder. In the autosomal dominant form, which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor specific protein rhodopsin. This is the transmembrane protein which, when