NCF1, along with NCF2 and a membrane bound cytochrome b558, is required for activation of the latent NADPH oxidase necessary for superoxide production. Defects in NCF1 are the cause of autosomal cytochrome-b-positive chronic granulomatous disease type 1 (CGD).

The Hox proteins play a role in development and cellular differentiation by regulating downstream target genes. Specifically, the Hox proteins direct DNA-protein and protein-protein interactions that assist in determining the morphologic features associated with the anterior-posterior body axis. HoxA13 and HoxD13 also bind to other BMP and TGF-beta/Activin-regulated Smad proteins including Smad1 and Smad2, but not Smad4. In humans and mice, loss of HOXA13 function causes defects in the gr

The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been fo

Adipose triglyceride lipase (ATGL) may function as a lipase and play a role in the adaptive response to a low energy state, such as fasting, by providing fatty acids to other tissues for oxidation. In addition, decreased expression of desnutrin in obesity models suggests its possible contribution to the pathophysiology of obesity. ATGL catalyzes the initial step in triglyceride hydrolysis in mammalian adipose tissue. ATGL contains a patatin domain common to plant acyl hydrolases. ATGL is highl

Pokemon, the POK erythroid myeloid ontogenic factor, not only regulates the expression of many genes, but also plays an important role in cell tumorigenesis. To investigate the molecular mechanism regulating expression of the Pokemon gene in humans, its 5'-upstream region was cloned and analyzed. Transient analysis revealed that the Pokemon promoter is constitutive. Deletion analysis and a DNA decoy assay indicated that the NEG-U and NEG-D elements were involved in negative regulation of th

This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. The binding of sequence-specific DNA binding proteins to human nucleosome assembly protein 1 may be an important step contributing to the activation of transcription. May be involved in modulating chromatin formation and contribute to regulation of cell proliferati