DISEASES

Disease-gene associations mined from literature

Literature associating TCHH and pilomatrixoma

TCHH [ENSP00000480484]

Trichohyalin; 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; EF-hand domain containing

Synonyms:  TCHH,  A2RRS3,  Q07283,  Q5D861,  THH ...

Linkouts:  STRING  Pharos  UniProt