| Symbol: Name: ID: |
BFSP1 beaded filament structural protein 1, filensin GFS:346 |
| Gene name: | BFSP1 |
| Chromosome: | 20p12.1 |
| Previous Symbols: | |
| Previous Names: | |
| Aliases: | CP94, CP115, LIFL-H, filensin |
| Name Aliases: | |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:101770 | Rat Genome Database ID: | RGD:2205 |
| HGNC ID: | HGNC:1040 | RefSeq IDs: | NM_001161705 |
| Entrez Gene ID: | 631 | Ensembl Gene ID: | ENSG00000125864 |
| VEGA IDs: | OTTHUMG00000031940 | UniProt ID: | Q12934 |
| UCSC ID: | uc002wpo.2 | OMIM ID: | 603307 |
| Pubmed: | PMID9787085 | ||
| CCDS IDs: | CCDSCCDS13126.1 | ||
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, CP49 (also known as phakinin) and the protein product of this gene, filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
Products for BFSP1 gene
| Catalog | Product Name | Application | Company |
| GFS:E00346 | beaded filament structural protein 1, filensin; ELISA kit | ELISA | n/a |
| GFS:A00346 | beaded filament structural protein 1, filensin; Anti | ANTIBODIES | n/a |
| GFS:P00346 | beaded filament structural protein 1, filensin; Protien | Protien | n/a |