人 BFSP1 (NM_001278607) cDNA克隆

Accession: NM_001278607
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 4, mRNA.
种属: Human
CDS区长度: 1665 (查看编码区序列)
翻译后氨基酸长度: 554 (查看氨基酸序列)
Transcript Variant: This variant (4) uses an alternate splice site in the 5' most exon which results in the use of alternate start codon, compared to variant 1. The encoded isoform (4) has a longer and distinct N-terminus, compared to isoform 1.
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G116802 人 BFSP1 (NM_001278607) 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]