该基因属于补体因子H相关基因家族(CFHR),与1号染色体上的补体因子H基因簇合在一起,参与补体的调控CFHR基因突变与致密沉积病和非典型溶血性尿毒综合征有关另外,已经发现该基因的剪接转录变体。[由RefSeq提供,2015年8月]
This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
基因名: | CFHR2 |
别名: | FHR2,HFL3,CFHL2 |
基因ID: | 3080 |
Chromosome: (GRCh37) | 1 Start: 196912888 End: 196928356 Strand: |
信号通路: |