人 BFSP1 (NM_001195) cDNA克隆

Accession: NM_001195
基因名称: BFSP1
基因别名: CP94; CP115; LIFL-H; CTRCT33
基因描述: Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1998 (查看编码区序列)
翻译后氨基酸长度: 665 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes isoform (1).
产品编号 产品名称 载体 规格 价格
G116800 人 BFSP1 (NM_001195) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]