该基因编码一种细胞质蛋白,具有三个细胞骨架相关蛋白-甘氨酸保守(cap-gly)结构域,作为一种去氢酶。该基因突变与圆筒状瘤、多发性家族性毛发上皮瘤和brooke-spiegler综合征有关。交替转录剪接变体,编码不同的亚型,已经被描述出来。[由RefSeq提供,2008年7月]
This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

基因名:CYLD
别名:EAC,MFT,SBS,TEM,BRSS,CDMT,MFT1,CYLD1,CYLDI,USPL2
基因ID:1540
Chromosome:
(GRCh37)
16 Start: 50775961 End: 50835847 Strand: 
信号通路: 凋亡抑制  肿瘤干细胞 
CYLD 基因突变与药物

相关基因检测