TCHHL1 Gene
Trichohyalin-Like 1: A Structural Protein in Skin and Hair
Gene Information Card
| Symbol | TCHHL1 |
|---|---|
| Full Name | Trichohyalin-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 126637 ncbi.nlm.nih.gov/gene/126637 |
| Ensembl ID | ENSG00000188672 |
| UniProt ID | Q8IUR7 |
| OMIM ID | 612830 |
| HGNC ID | 26606 |
| Aliases | TRHYL1, bA162G10.1 |
Description
TCHHL1 (trichohyalin-like 1) is a protein-coding gene located on chromosome 1q21.3 within the epidermal differentiation complex (EDC). The encoded protein is a member of the fused-type S100 protein family and is expressed in the granular layer of the epidermis and the inner root sheath of hair follicles. TCHHL1 is involved in the formation of the cornified cell envelope, contributing to skin barrier function and hair shaft integrity. Its expression is regulated during keratinocyte differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ichthyosis vulgaris (potential modifier) | Altered cornified envelope assembly may impair barrier function | Limited; indirect evidence from EDC cluster studies |
| Atopic dermatitis (susceptibility locus) | Dysregulation of epidermal differentiation genes in the EDC | GWAS association with 1q21.3 region |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 3.2 | Low |
| Hair follicle | 8.9 | Medium |
| Tongue | 1.1 | Low |
| Vagina | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.3 | Differentiated keratinocytes |
| NHEK (normal human epidermal keratinocytes) | 18.7 | High expression in differentiated cells |
| A431 (epidermoid carcinoma) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.1022G>A (p.Arg341Gln) | Missense | <0.01% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants described.
Dominant Negative (DN)
No dominant-negative mutations identified.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of skin epidermis | • intermediate filament binding |
| • calcium ion binding | • cornified envelope |
Pathways
• Keratinization
• Formation of the cornified envelope
• Epidermal differentiation complex (EDC)
Protein Summary
Trichohyalin-like 1 is a 1093-amino acid protein containing multiple EF-hand calcium-binding domains and a fused-type S100 domain. It localizes to the cytoplasm and intermediate filaments of differentiating keratinocytes. The protein cross-links with other cornified envelope components (e.g., loricrin, involucrin) via transglutaminase activity, contributing to the mechanical resilience of the skin barrier. In hair follicles, TCHHL1 is expressed in the inner root sheath and may interact with trichohyalin to stabilize the hair shaft.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCHHL1 Knockout HEK293 Cell Line | EDJ-KQ8932 | Human | 126637 | Details Get a Quote |
| TCHHL1 Knockout HeLa Cell Line | EDJ-KQ58181 | Human | 126637 | Details Get a Quote |
| TCHHL1 Knockout A-549 Cell Line | EDJ-KQ66671 | Human | 126637 | Details Get a Quote |
| TCHHL1 Knockout HCT 116 Cell Line | EDJ-KQ75086 | Human | 126637 | Details Get a Quote |
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