Entrez Summary: This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008].
UniProt Summary: Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.
Pfam DomainsGO Terms
Pfam Domains
Filament
GO Terms
hematopoietic progenitor cell differentiation
keratin filament
cornification
intermediate filament
structural molecule activity
keratinization
keratinocyte differentiation
epidermal cell differentiation
skin development
epidermis development
hemopoiesis
hematopoietic or lymphoid organ development
immune system development
epithelial cell differentiation
programmed cell death
cell death
epithelium development
tissue development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)