NAR Molecular Biology Database Collection entry number 1021

Database Description

The Human Intermediate Filament Database ( was initiated by the Human Genetics Unit, University of Dundee in 2001 and was revised by the Centre for Molecular Medicine and the Bioinformatics Institute in Singapore in 2006, from where it is now being curated.

Intermediate filaments are part of the cytoskeleton, the flexible scaffold of polymeric filaments in the cytoplasm that is essential for structural integrity of the cell. Intermediate filament proteins are encoded by a large multigene family with an estimated 70 genes in the human genome plus a small number of alternatively spliced transcripts. Six classes of intermediate filament have been described, the two largest of which are the keratins (type I and type II intermediate filaments).

Since 1991, variations in 20 different epithelial keratin genes have been shown to cause of a variety of human diseases in epidermal and epithelial structures. The number of published variants within the keratins alone is now in excess of 696 and combined with the pathogenic variants that are emerging in the other members of the intermediate filament gene superfamily, this shows the growing need for a readily accessible database of intermediate filament variants. In accordance with the aims of the HUGO Human Genome Variation Society, the Human Intermediate Filament Database has been established to address this need.

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