External Ids for TCHH Gene
Previous HGNC Symbols for TCHH Gene
Previous GeneCards Identifiers for TCHH Gene
Trichohyalin confers mechanical strength to the hair follicle inner root sheath and to other toughened epithelial tissues, such as the hard palate and filiform ridges of the tongue, by forming multiple complex crosslinks with itself and with other structural proteins (Steinert et al., 2003 [PubMed 12853460]).[supplied by OMIM, Dec 2009]
GeneCards Summary for TCHH Gene
TCHH (Trichohyalin) is a Protein Coding gene. Diseases associated with TCHH include monilethrix and epidermolytic hyperkeratosis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is TCHHL1.
UniProtKB/Swiss-Prot for TCHH Gene
Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation