Cfb

Homo sapiens

This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]

Insr

Homo sapiens

This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

Insr

Rattus norvegicus

Enables several functions, including enzyme binding activity; insulin binding activity; and insulin receptor activity. Involved in several processes, including brain development; negative regulation of macromolecule metabolic process; and neuron projection organization. Located in several cellular components, including dendrite membrane; external side of plasma membrane; and neuronal cell body membrane. Used to study chronic kidney disease; diabetic neuropathy; liver disease (multiple); and type 2 diabetes mellitus. Biomarker of several diseases, including Alzheimer's disease; diabetes mellitus (multiple); hepatic encephalopathy; liver disease (multiple); and short bowel syndrome. Human ortholog(s) of this gene implicated in Donohue syndrome; glucose metabolism disease (multiple); and reproductive organ cancer (multiple). Orthologous to human INSR (insulin receptor); PARTICIPATES IN altered leptin system pathway; insulin signaling pathway; phosphatidylinositol 3-kinase-Akt signaling pathway; INTERACTS WITH (+)-catechin; (3,4-dihydroxyphenyl)acetic acid; (S)-nicotine.