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 |