HXK I Monoclonal Antibody, 100ul[BT-MCA0759] Cellular Function Assays The peroxisome biogenesis disorders (PBDs)

The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive

The product of SSX1 belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins

CD69 encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors

NFATC4 encodes a member of the nuclear factor of activated T cells (NFAT) protein family

The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi

HXK I Monoclonal Antibody, 100ul[BT-MCA0759] Cellular Function Assays The peroxisome biogenesis disorders (PBDs)Hexokinases phosphorylate glucose to produce glucose 6 phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene 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