Gfap [Search on AGR]
Homo sapiens This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Gfap [Search on AGR]
Rattus norvegicus Enables integrin binding activity and kinase binding activity. A structural constituent of cytoskeleton. Involved in positive regulation of glial cell proliferation and regulation of chaperone-mediated autophagy. Located in astrocyte projection and cytoplasmic side of lysosomal membrane. Biomarker of brain edema and retinal disease. Human ortholog(s) of this gene implicated in Alexander disease. Orthologous to human GFAP (glial fibrillary acidic protein); PARTICIPATES IN chaperone mediated autophagy pathway; INTERACTS WITH (+)-pilocarpine; (R)-carnitine; (R,R,R)-alpha-tocopherol.
Insr [Search on AGR]
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]