IGLL1 est un gène codé par le symbole IGLL1. Communément appelé aussi: Immunoglobulin lambda-like polypeptide 1; CD179 antigen-like family member B; Ig lambda-5; Immunoglobulin omega polypeptide; Immunoglobulin-related protein 14.1; IGL1. IGLL1 a une masse de 22.96kDa, une longueur d'acide aminé de 213, et est impliqué dans Agammaglobulinemia 2, autosomal recessive.
Nous proposons 7 des anticorps contre IGLL1, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Critical for B-cell development.
Résumé Entrez
The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene.
Spécificité tissulaire
Expressed only in pre-B-cells and a special B-cell line (which is surface Ig negative).
Implication dans la maladie
Agammaglobulinemia 2, autosomal recessive: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
Localisation cellulaire
Secreted.
