HXK I Polyclonal Antibody, 100ul Molecular Sciences Mutations in MYOZ2 cause cardiomyopathy

Mutations in MYOZ2 cause cardiomyopathy familial hypertrophic type 16

The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus

PKC family members also serve as major receptors for phorbol esters

Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity

HXK I Polyclonal Antibody, 100ul Molecular Sciences Mutations in MYOZ2 cause cardiomyopathyHexokinases phosphorylate glucose to produce glucose 6 phosphate, the first step in most glucose metabolism pathways. HK1 encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in HK1 have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue specific.