From NCBI Gene: Neutrophil immunodeficiency syndromeFrom UniProt: Neutrophil immunodeficiency syndrome (NEUID): An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing. [MIM:608203]

     From NCBI Gene: This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013] From UniProt: Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase .

The following transcription factors affect gene expression:

• AP-1
• c-Jun
• STAT3

Tissue specificity:

Hematopoietic specific.

Enzyme Regulation:

Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.

Molecular Function:

• Gtpase Activity
• Gtp Binding
• Protein Kinase Regulator Activity

Biological Processes:

• Actin Filament Organization
• Bone Resorption
• Cell Projection Assembly
• Chemotaxis
• G-Protein Coupled Receptor Signaling Pathway
• Lymphocyte Aggregation
• Platelet Activation
• Positive Regulation Of Cell Proliferation
• Positive Regulation Of Lamellipodium Assembly
• Positive Regulation Of Neutrophil Chemotaxis
• Positive Regulation Of Protein Targeting To Mitochondrion
• Regulation Of Cell-Substrate Adhesion
• Regulation Of Hydrogen Peroxide Metabolic Process
• Regulation Of Mast Cell Chemotaxis
• Regulation Of Mast Cell Degranulation
• Regulation Of Neutrophil Migration
• Regulation Of Respiratory Burst
• Regulation Of Small Gtpase Mediated Signal Transduction
• Regulation Of T Cell Proliferation
• Signal Transduction
• Small Gtpase Mediated Signal Transduction

Drug Bank:

• Dextromethorphan