Category: Proteins & Peptides

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Reference: GTX88043-PEP

This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 29]

Reference: GFH173-2

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GFH173-10

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GTX88045-PEP

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogous loci on human chromosome 1, resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Dec 212]

Reference: GFH173-100

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GTX88046-PEP

The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 28]

Reference: GFH173-1000

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GTX88047-PEP

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 28]

Reference: GFH173AF-2

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.

Reference: GTX88049-PEP

This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 28]

Reference: GFH173AF-10

Interleukin-1 α (IL-1 α) is expressed by epithelial cells, activated macrophages, neutrophils, and endothelial cells to regulate immune responses. IL-1 α signals through the IL-1 receptor, type 1 (IL-1R1) to activate the myeloid differentiation primary response 88 (MYD88) signaling pathway, which contains the cytoplasmic Toll/IL-1 receptor (TIR) domain adapter. IL-1 α and the independently regulated IL-1 β protein have overlapping proinflammatory activities to induce adhesion molecule expression on epithelial cells, control fever induction, initiate rheumatoid arthritis, and promote septic shock.