人 BFSP1 (NM_001161705) cDNA克隆

Accession: NM_001161705
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 2, mRNA.
种属: Human
CDS区长度: 1623 (查看编码区序列)
翻译后氨基酸长度: 540 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
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G116799 人 BFSP1 (NM_001161705) 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]