LAMB2基因编码层粘连蛋白β2亚基，属于层粘连蛋白（laminin）基因家族，该家族成员是基底膜的重要组成成分，参与细胞粘附、迁移、分化和组织结构的维持。LAMB2与α和γ亚基共同形成层粘连蛋白-521（laminin-521），主要在肾脏、眼睛和神经肌肉接头等组织的基底膜中表达，对肾小球滤过屏障的完整性、视网膜发育和突触形成至关重要。LAMB2突变可导致Pierson综合征，表现为先天性肾病综合征、眼部异常（如小眼球或白内障）和神经肌肉功能障碍，严重突变可能导致新生儿死亡。LAMB2功能丧失会破坏基底膜结构，影响肾小球足细胞与基底膜的相互作用，导致蛋白尿和肾功能衰竭；在眼部则影响视网膜结构发育。过表达LAMB2的研究较少，但可能通过增强基底膜稳定性促进组织修复，但异常高表达可能与某些肿瘤的侵袭性相关，因为层粘连蛋白参与肿瘤微环境调控。LAMB2与LAMA5和LAMC1等基因协同形成层粘连蛋白网络，其表达异常可能影响这些伙伴基因的功能。层粘连蛋白家族共性包括：均由α、β、γ三条链组成三聚体，含有EGF样重复域和球状结构域，通过整合素等受体介导细胞-基质相互作用。LAMB2的调控对理解肾脏和眼部疾病机制具有重要意义，也是潜在的治疗靶点。

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]

层粘连蛋白，一个家庭的细胞外基质糖蛋白，是基底膜的主要非胶原成分。他们已牵涉在多种生物学过程，包括细胞粘着，分化，迁移，信令，神经突向外生长和转移。层粘连蛋白，3个非同一链组成的：层粘连蛋白α，β和γ（前身为A，B1和B2，分别），形成一个十字形结构，其中包括3短臂，每个由不同的链形成，一个长臂组成所有的3链。每个层粘连蛋白链是由不同的基因编码的蛋白质的多域。每条链的几种同工型已被描述。不同的α，β和γ链异构体结合以引起其通过阿拉伯数字在其发现的顺序指定不同异源层粘连蛋白同种型，即alpha1beta1gamma1异源是层粘连蛋白1的不同链和三聚体分子的生物功能在很大程度上是未知，但一些链已显示对于不同其组织分布，推测反映出体内多种功能。该基因编码的β链亚型层粘连蛋白，β2测试版2链包含典型的层粘连蛋白β链，包括短阿尔法地区的7结构域。然而，与测试版1链，β2具有更受限制的组织分布。它是在神经肌肉接头，肾小球和血管平滑肌肌基底膜富集。转基因小鼠在公测2链基因通过同源重组灭活，表现出缺陷神经肌肉接头处和肾小球滤过功能障碍的成熟。有报道涉及该基因的非编码区的非共识5‘中的5剪接位点（GC）‘剪接。有人建议，该第一内含子，它不改变蛋白质序列的低效剪接，导致转录比剪接形式的未剪接形式的更大的丰度。剪接转录物的全长性质是未知的。 [由RefSeq的，2011年8月提供]

LAMB2基因在不同组织中的表达：    [UniProt]

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