人 BFSP1 (NM_001278608) cDNA克隆

Accession: NM_001278608
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 5, mRNA.
种属: Human
CDS区长度: 1581 (查看编码区序列)
翻译后氨基酸长度: 526 (查看氨基酸序列)
Transcript Variant: This variant (5) uses an alternate 5' structure and uses a downstream start codon, compared to isoform 1. The encodes isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 5 encode the same isoform (3).
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G116803 人 BFSP1 (NM_001278608) 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]