TCHH

Tchh functions in intermediate filament organization.

Full Name

Trichohyalin

Function

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.

Biological Process

Biological Process intermediate filament organizationIBA:GO_Central1 Publication
Biological Process keratinizationIEA:UniProtKB-KW

Cellular Location

cornified envelope
cytoskeleton
cytosol

Involvement in disease

Uncombable hair syndrome 3 (UHS3):
A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age.

PTM

Substrate of transglutaminase. Some 200 arginines are probably converted to citrullines by peptidylarginine deimidase.