Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7062
MIM: 190370
HGNC: 11791
Ensembl: ENSG00000159450
Variants:
dbSNP: 7062
ClinVar: 7062
TCGA: ENSG00000159450
COSMIC: TCHH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000159450 | ENST00000368804 | Q07283 |
| ENSG00000159450 | ENST00000614923 | Q07283 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Keratinization | REACTOME | R-HSA-6805567 |
| Formation of the cornified envelope | REACTOME | R-HSA-6809371 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37643197 | 2023 | Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III. | 1 |
| 37643197 | 2023 | Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III. | 1 |
| 34110642 | 2021 | Methylome profiling identifies TCHH methylation in CfDNA as a noninvasive marker of liver metastasis in colorectal cancer. | 2 |
| 34110642 | 2021 | Methylome profiling identifies TCHH methylation in CfDNA as a noninvasive marker of liver metastasis in colorectal cancer. | 2 |
| 27460132 | 2016 | Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin. | 6 |
| 27487801 | 2016 | Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations. | 18 |
| 27866708 | 2016 | Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. | 51 |
| 27460132 | 2016 | Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin. | 6 |
| 27487801 | 2016 | Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations. | 18 |
| 27866708 | 2016 | Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. | 51 |
| 20585627 | 2010 | Web-based, participant-driven studies yield novel genetic associations for common traits. | 199 |
| 20722389 | 2010 | Trichohyalin is a potential major autoantigen in human alopecia areata. | 23 |
| 20585627 | 2010 | Web-based, participant-driven studies yield novel genetic associations for common traits. | 199 |
| 20722389 | 2010 | Trichohyalin is a potential major autoantigen in human alopecia areata. | 23 |
| 18643848 | 2009 | Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle. | 0 |
Citation
Dessen P
TCHH (trichohyalin)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74583/tchh-(trichohyalin)
