Symbol: Name: ID: |
BFSP2 beaded filament structural protein 2, phakinin GFS:355 |
Gene name: | BFSP2 |
Chromosome: | 3q22.1 |
Previous Symbols: | |
Previous Names: | |
Aliases: | CP47, CP49, LIFL-L, phakinin |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1333828 | Rat Genome Database ID: | |
HGNC ID: | HGNC:1041 | RefSeq IDs: | NM_003571 |
Entrez Gene ID: | 8419 | Ensembl Gene ID: | ENSG00000170819 |
VEGA IDs: | UniProt ID: | Q13515 | |
UCSC ID: | uc003epn.1 | OMIM ID: | 603212 |
Pubmed: | |||
CCDS IDs: | CCDSCCDS33859.1 |
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and 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 have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for BFSP2 gene
Catalog | Product Name | Application | Company |
GFS:E00355 | beaded filament structural protein 2, phakinin; ELISA kit | ELISA | n/a |
GFS:A00355 | beaded filament structural protein 2, phakinin; Anti | ANTIBODIES | n/a |
GFS:P00355 | beaded filament structural protein 2, phakinin; Protien | Protien | n/a |