OAT Polyclonal Antibody, 50ul Gloves disease:Defects in COL2A1 are a

disease:Defects in COL2A1 are a cause of primary avascular necrosis of femoral head (ANFH)

and activates IkappaB kinase alpha and beta

The protein encoded by PKN1 (protein kinase N1) belongs to the protein kinase C superfamily

Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits

transcript variants originating from this position are expressed from the maternal allele

OAT Polyclonal Antibody, 50ul Gloves disease:Defects in COL2A1 are aOAT encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been