人 CFHR3 (NM_001166624) cDNA克隆

Accession: NM_001166624
基因名称: CFHR3
基因别名: FHR3; HLF4; CFHL3; FHR-3; DOWN16
基因描述: Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 2, mRNA.
种属: Human
CDS区长度: 810 (查看编码区序列)
翻译后氨基酸长度: 269 (查看氨基酸序列)
Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
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G118593 人 CFHR3 (NM_001166624) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]