Gene Symbol | BFSP1 |
Entrez Gene ID | 631 |
Full Name | beaded filament structural protein 1 |
Synonyms | CP115,CP94,CTRCT33,LIFL-H |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cataract 33, multiple types, 611391 (3) |