BFSP1 Chromosome 20
Beaded filament structural protein 1
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What This Gene Does
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]
Gene Info
Gene Group
Beaded filament structural proteins
Locus Type
gene with protein product
Location
20p12.1
Ensembl
ENSG00000125864
Associated Conditions (5)
Cataract 33
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Melanoma
Developmental cataract
Key Variants
RS140135049
Conflicting classifications of pathogenicity
Cataract 33, Inborn genetic diseases, Uterine corpus endometrial carcinoma
Health Risk
RS151173407
Conflicting classifications of pathogenicity
Cataract 33, Cataract 33
Health Risk
RS886038419
Conflicting classifications of pathogenicity
Cataract 33, Cataract 33
Health Risk
RS2123446094
Likely pathogenic
Developmental cataract, Developmental cataract
Health Risk
RS2123536475
Likely pathogenic
Cataract 33, Cataract 33
Health Risk
RS1085307126
Pathogenic
Cataract 33, Cataract 33
Health Risk
RS1085307127
Pathogenic
Cataract 33, Cataract 33
Health Risk
RS1246080692
Pathogenic
Cataract 33, Cataract 33
Health Risk
RS2033726928
Pathogenic
Cataract 33, Cataract 33
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140135049 | Health Risk | Conflicting classifications of pathogenicity | Cataract 33, Inborn genetic diseases, Uterine corpus endometrial carcinoma |
| RS151173407 | Health Risk | Conflicting classifications of pathogenicity | Cataract 33, Cataract 33 |
| RS886038419 | Health Risk | Conflicting classifications of pathogenicity | Cataract 33, Cataract 33 |
| RS2123446094 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS2123536475 | Health Risk | Likely pathogenic | Cataract 33, Cataract 33 |
| RS1085307126 | Health Risk | Pathogenic | Cataract 33, Cataract 33 |
| RS1085307127 | Health Risk | Pathogenic | Cataract 33, Cataract 33 |
| RS1246080692 | Health Risk | Pathogenic | Cataract 33, Cataract 33 |
| RS2033726928 | Health Risk | Pathogenic | Cataract 33, Cataract 33 |