TCHH (Trichohyalin) Gene
Structural protein gene involved in hair follicle and epidermal differentiation
Gene Information Card
| Symbol | TCHH |
|---|---|
| Full Name | Trichohyalin |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 7062 ncbi.nlm.nih.gov/gene/7062 |
| Ensembl ID | ENSG00000159450 |
| UniProt ID | Q07283 |
| OMIM ID | 190370 |
| HGNC ID | 11713 |
| Aliases | THH, THL, TRHY |
Description
The TCHH gene encodes trichohyalin, a structural protein expressed in the inner root sheath of hair follicles and in the granular layer of the epidermis. It is involved in cross-linking of intermediate filaments during terminal differentiation of epithelial cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Uncombable hair syndrome (UHS) | Mutations in TCHH disrupt trichohyalin structure, impairing hair shaft formation. | ClinVar, OMIM |
| Hair shaft abnormalities | Altered cross-linking of intermediate filaments leads to brittle or unmanageable hair. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Hair follicle | 18.3 | High |
| Esophagus | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 8.1 | Immortalized keratinocyte line |
| NHEK (normal human epidermal keratinocytes) | 10.4 | Primary cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1078C>T (p.Arg360Cys) | Missense | Rare | Alters protein cross-linking |
| c.1249G>A (p.Gly417Arg) | Missense | Rare | Associated with uncombable hair syndrome |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce trichohyalin cross-linking capacity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Possible in heterozygous state for UHS.
View complete mutation data：
Gene Ontology (GO)
| • Intermediate filament binding | • Structural constituent of skin epidermis |
| • Keratinocyte differentiation | • Hair follicle development |
Pathways
• Keratinization
• Intermediate filament organization
Protein Summary
Trichohyalin is a 248 kDa protein rich in glutamine and lysine residues, forming cross-links via transglutaminase activity. It is essential for the structural integrity of the inner root sheath and hair shaft.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCHH Knockout HEK293 Cell Line | EDJ-KQ3380 | Human | 7062 | Details Get a Quote |
| TCHHL1 Knockout HEK293 Cell Line | EDJ-KQ8932 | Human | 126637 | Details Get a Quote |
| TCHH Knockout HeLa Cell Line | EDJ-KQ54655 | Human | 7062 | Details Get a Quote |
| TCHHL1 Knockout HeLa Cell Line | EDJ-KQ58181 | Human | 126637 | Details Get a Quote |
| TCHH Knockout A-549 Cell Line | EDJ-KQ63136 | Human | 7062 | Details Get a Quote |
| TCHHL1 Knockout A-549 Cell Line | EDJ-KQ66671 | Human | 126637 | Details Get a Quote |
| TCHH Knockout HCT 116 Cell Line | EDJ-KQ71609 | Human | 7062 | Details Get a Quote |
| TCHHL1 Knockout HCT 116 Cell Line | EDJ-KQ75086 | Human | 126637 | Details Get a Quote |
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