Entity Details

Primary name TCHH
Entity type gene
Source Source Link

Details

PrimaryID7062
RefseqGeneNG_052960
SymbolTCHH
Nametrichohyalin
Chromosome1
Location1q21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-03-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTRHY_HUMAN

GO terms

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GOName
GO:0001533 cornified envelope
GO:0005509 calcium ion binding
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0045109 intermediate filament organization
GO:0046914 transition metal ion binding
GO:0070268 cornification

Diseases

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Disease IDSourceNameDescription
617252 OMIMUncombable hair syndrome 3 (UHS3)A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. The disease is caused by variants affecting the gene represented in this entry.

Interactions

12 interactions

InteractorPartnerSourcesPublicationsLink
TCHHUBCBioGRID23314748 details
TCHHTBC1D14BioGRID, IntAct28514442 details
TCHHOAZ3BioGRID, IntAct28514442 details
TCHHNSMAFBioGRID, IntAct28514442 details
TCHHCCND1BioGRID, IntAct28514442 details
TCHHEZRBioGRID, IntAct29568061 details
TCHHLMNABioGRID, IntAct30021884 details
TCHHEFHD1BioGRID17353931 details
TCHHMCM2BioGRID25963833 details
TCHHKIF14BioGRID31586073 details
TCHHSP110BioGRID31753913 details
TCHHTP53BioGRID32807901 details