VIM Chromosome 10
Vimentin
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What This Gene Does
This gene encodes a type III intermediate filament protein. Intermediate filaments, along with microtubules and actin microfilaments, make up the cytoskeleton. The encoded protein is responsible for maintaining cell shape and integrity of the cytoplasm, and stabilizing cytoskeletal interactions. This protein is involved in neuritogenesis and cholesterol transport and functions as an organizer of a number of other critical proteins involved in cell attachment, migration, and signaling. Bacterial and viral pathogens have been shown to attach to this protein on the host cell surface. Mutations in this gene are associated with congenital cataracts in human patients. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Intermediate filaments Type III
Locus Type
gene with protein product
Location
10p13
Ensembl
ENSG00000026025
Associated Conditions (3)
syndrome with premature-aging
Cataract 30
Developmental cataract
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1588736025 | Health Risk | Likely pathogenic | syndrome with premature-aging, syndrome with premature-aging |
| RS121917775 | Health Risk | Pathogenic | Cataract 30, Cataract 30 |
| RS864309690 | Health Risk | Pathogenic/Likely pathogenic | Developmental cataract, Cataract 30, Developmental cataract |