External Ids for TCHH Gene
Previous HGNC Symbols for TCHH Gene
Previous GeneCards Identifiers for TCHH Gene
The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]
GeneCards Summary for TCHH Gene
TCHH (Trichohyalin) is a Protein Coding gene. Diseases associated with TCHH include Uncombable Hair Syndrome 3 and Pilomatrixoma. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include calcium ion binding.
UniProtKB/Swiss-Prot Summary 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.