IGLL1 - immunoglobulin lambda like polypeptide 1 Gene

中文名称：免疫球蛋白λ样多肽 1

种属: Homo sapiens

同用名: IGO; 14.1; AGM2; IGL1; IGL5; IGLL; IGVPB; CD179b; VPREB2; IGLJ14.1

关于 IGLL1

功能概要

preB 细胞受体存在于 proB 和 preB 细胞的表面，参与细胞增殖信号的转导、从 proB 细胞向 preB 细胞阶段的分化、Ig 重链基因位点的等位基因排除和促进 Ig 轻链基因重排。 preB 细胞受体由膜结合的 Ig mu 重链和异二聚体替代轻链组成。该基因编码替代轻链亚基之一，是免疫球蛋白基因超家族的成员。该基因不进行重排。该基因的突变可导致 B 细胞缺陷和无丙种球蛋白血症，这是一种常染色体隐性遗传病，其中很少或没有产生丙种球蛋白或抗体。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2008 年 7 月]

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. [provided by RefSeq, Jul 2008]