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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TCHH
trichohyalin
Chromosome 1 Β· 1q21.3
NCBI Gene: 7062Ensembl: ENSG00000159450.13HGNC: HGNC:11791UniProt: Q07283
33PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intermediate filament organizationprotein-macromolecule adaptor activitycalcium ion bindingcytosolandrogenetic alopeciauncombable hair syndrome 3uncombable hair syndromehair morphology
✦AI Summary

TCHH (trichohyalin) is an intermediate filament-associated protein that plays a critical role in hair and skin barrier formation. It associates with keratin intermediate filaments in inner root sheath cells and the epidermal granular layer, becoming cross-linked through isodipeptide bonds during terminal differentiation 1. TCHH belongs to the S100 fused-type protein family alongside filaggrin and hornerin, contributing to cornified envelope organization and the cell envelope scaffold structure 1. The protein exhibits calcium-dependent postsynthetic processing during epidermal differentiation 2. At the molecular level, dermal adipose tissue-derived HGF upregulates TCHH expression in hair matrix keratinocytes through Wnt/Ξ²-catenin signaling activation, promoting hair growth and pigmentation 2. TCHH expression is downregulated in atopic dermatitis skin models stimulated with IL-4 and IL-13 1. Clinically, TCHH variants are associated with uncombable hair syndrome (UHS), a rare genetic hair shaft disorder; only 2 of 80 genetically characterized UHS cases carried TCHH mutations, with most attributable to PADI3 variants 3. Additionally, TCHH polymorphisms (rs11803731) significantly predict hair morphology in Europeans, with specific genotype combinations showing >80% probability of straight hair 4. TCHH methylation in circulating free DNA serves as a noninvasive biomarker for liver metastasis in colorectal cancer 5, suggesting broader pathological relevance beyond dermatology.

Sources cited
1
TCHH is upregulated by HGF in hair matrix keratinocytes through Wnt/Ξ²-catenin signaling; involved in hair growth and pigmentation regulation
PMID: 33493531
2
TCHH is an S100 fused-type protein family member involved in cornified envelope; downregulated in IL-4/IL-13-stimulated atopic dermatitis skin models
PMID: 36995036
3
Pathogenic TCHH variants are associated with uncombable hair syndrome; 2 of 80 genetically characterized UHS cases carried TCHH mutations
PMID: 36044230
4
TCHH SNP rs11803731 significantly associates with straight hair morphology in Europeans; combined genotypes predict hair morphology with high sensitivity
PMID: 26414620
5
TCHH methylation in circulating free DNA is a potential noninvasive marker for liver metastasis in colorectal cancer
PMID: 34110642
6
TCHH exhibits epigenetic variation in iPSC lines but shows consistent expression in differentiated 3D epidermal equivalents
PMID: 27460132
Disease Associationsβ“˜21
androgenetic alopeciaOpen Targets
0.42Moderate
uncombable hair syndrome 3Open Targets
0.38Weak
uncombable hair syndromeOpen Targets
0.37Weak
hair morphologyOpen Targets
0.33Weak
skin diseaseOpen Targets
0.16Weak
seborrheic keratosisOpen Targets
0.16Weak
actinic keratosisOpen Targets
0.16Weak
sebaceous gland diseaseOpen Targets
0.13Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.07Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.07Suggestive
movement disorderOpen Targets
0.07Suggestive
schizophrenia 15Open Targets
0.07Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
alopeciaOpen Targets
0.06Suggestive
autismOpen Targets
0.05Suggestive
Phelan-McDermid syndromeOpen Targets
0.05Suggestive
Uncombable hair syndrome 3UniProt
Pathogenic Variants3
NM_007113.4(TCHH):c.1153_1162del (p.Arg385fs)Likely pathogenic
Uncombable hair syndrome 3
β˜…β˜†β˜†β˜†2025β†’ Residue 385
NM_007113.4(TCHH):c.699del (p.Gln234fs)Likely pathogenic
Uncombable hair syndrome 3
β˜…β˜†β˜†β˜†2023β†’ Residue 234
NM_007113.4(TCHH):c.991C>T (p.Gln331Ter)Likely pathogenic
Uncombable hair syndrome 3
β˜…β˜†β˜†β˜†2018β†’ Residue 331
View on ClinVar β†—
Related Genes
PRPHShared pathway100%BFSP2Shared pathway100%S100A6Protein interaction84%PADI3Protein interaction84%FLGProtein interaction81%IVLProtein interaction81%
Tissue Expression6 tissues
Brain
100%
Lung
39%
Liver
31%
Heart
24%
Ovary
16%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
TCHHPRPHBFSP2S100A6PADI3FLGIVL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q07283
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.18 [0.74–1.81]
RankingsWhere TCHH stands among ~20K protein-coding genes
  • #11,433of 20,598
    Most Researched33
  • #4,106of 5,498
    Most Pathogenic Variants3
  • #16,626of 17,882
    Most Constrained (LOEUF)1.81
Genes detectedTCHH
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Dermal Adipose Tissue Secretes HGF to Promote Human Hair Growth and Pigmentation.
PMID: 33493531
J Invest Dermatol Β· 2021
1.00
2
Methylome profiling identifies TCHH methylation in CfDNA as a noninvasive marker of liver metastasis in colorectal cancer.
PMID: 34110642
FASEB J Β· 2021
0.90
3
VolcanoFinder: Genomic scans for adaptive introgression.
PMID: 32555579
PLoS Genet Β· 2020
0.80
4
Altered expression of S100 fused-type proteins in an atopic dermatitis skin model.
PMID: 36995036
Exp Dermatol Β· 2023
0.70
5
Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans.
PMID: 26414620
Forensic Sci Int Genet Β· 2015
0.60