该基因编码的蛋白是结缔组织微纤维的组成部分,可能参与弹性纤维的组装。该基因突变导致先天性蛛网膜挛缩[由RefSeq提供,2008年7月]
The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

基因名:FBN2
别名:CCA,DA9,EOMD
基因ID:2201
Chromosome:
(GRCh37)
5 Start: 127593601 End: 127873735 Strand: 
信号通路:  
FBN2 基因突变与药物

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