IL7R alpha è un gene codificato dal simbolo IL7R. Comunemente indicato anche come: Interleukin-7 receptor subunit alpha; IL-7 receptor subunit alpha; CDw127; IL7R. IL7R alpha ha una massa di 51.58kDa, una lunghezza di amminoacidi di 459, ed è implicato nella malattia: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive; Multiple sclerosis 3.
Offriamo 17 anticorpi contro IL7R alpha, allevati nel Coniglio, Topo e Human, che sono adatti per WB, IHC, ELISA, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
Sommario di Entrez
The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found.
Coinvolgimento nella malattia
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
Multiple sclerosis 3: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease.
Somiglianze di sequenza
Belongs to the type I cytokine receptor family. Type 4 subfamily.
Modifica post-translazionale
N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form.
Posizione cellulare
Cell membrane.
