||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.
|Gene References into Functions
- The difference between the twoinduced pluripotent stem cell(IPSC) clones in TCHH methylation did not have an obvious effect on its expression in 3D human epidermal equivalent, suggesting that differentiation and tissue formation may mitigate variations in the iPSC methylome. PMID: 27460132
- To evaluate the relative contribution of these variants, we performed a second genome-wide scan in 709 samples from the Uyghur, an admixed population with both eastern and western Eurasian ancestries. In Uyghurs, both EDAR (rs3827760: P = 1.92 x 10(-12)) and TCHH (rs11803731: P = 1.46 x 10(-3)) are associated with hair straightness, but EDAR (OR 0.415) has a greater effect than TCHH (OR 0.575). PMID: 27487801
- Data suggest that an immune response to trichohyalin and K16 may have a role in the pathogenesis of the enigmatic disorder. PMID: 20722389
- BMP-4 signalling activates AHF transcription in hair follicles. PMID: 18643848
- In human keratinocytes, we found BMP-4 facilitates trichohyalin (THH) transcription, and lamin C plays a key role in the posttranslational stabilization of THH. PMID: 18643848
- Common variants in the TCHH gene are associated with straight hair in Europeans. PMID: 19896111
|Involvement in disease
||Uncombable hair syndrome 3 (UHS3)
||S100-fused protein family
||Found in the hard keratinizing tissues such as the inner root sheath (IRS) of hair follicles and medulla, and in the filiform papillae of dorsal tongue epithelium.