PFKM Polyclonal Antibody, 20ul Microbial Genome Editing Mutations in SLC24A1 may play

Mutations in SLC24A1 may play a role in congenital stationary night blindness

Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene

Nitric oxide-sensitive guanylyl cyclase is a heterodimeric enzyme consisting of an alpha and a beta subunit

It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid

PFKM Polyclonal Antibody, 20ul Microbial Genome Editing Mutations in SLC24A1 may playThree phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose 6 phosphate to fructose 1,6 bisphosphate. Tetramer composition varies depending on tissue type. PFKM encodes the muscle type isozyme. Mutations in PFKM have been associated with glycogen storage disease type VII, also known as Tarui disease.