MALT1

该基因编码一种caspase样蛋白酶,在bcl10诱导的nf-kappab活化中发挥作用。该蛋白是CARMA1-BCL10-MALT1(CBM)信号体的组成部分,在抗原受体刺激后触发NF-kappab信号和淋巴细胞活化。该基因突变导致免疫缺陷12(IMD12)。在粘膜相关淋巴组织淋巴瘤中,该基因与其他基因在染色体易位中反复重排,包括带有杆状病毒iap重复序列蛋白3(也称为凋亡抑制因子2)位点的t(11;18)(q21;q21)易位和t(14;18)(q32;q21)易位。免疫球蛋白重链位点(igh-malt1)。另外,该基因的剪接转录变体已经被描述。[由RefSeq提供,2018年5月]
This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]

别名

MLT,MLT1,IMD12,PCASP1

基因id

Chromosome:18 Start: 56338618 End: 56417371 Strand: 

药物

突变与药物

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