TCHH Chromosome 1

Trichohyalin

3 variants 3 Health Risk

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What This Gene Does

The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]

Gene Info

Gene Group

"EF-hand domain containing|S100 fused type protein family"

Locus Type

gene with protein product

Location

1q21.3

Ensembl

ENSG00000159450

Associated Conditions (1)

Uncombable hair syndrome 3

Key Variants

RS143222885

Conflicting classifications of pathogenicity

Health Risk

RS201930497

Likely pathogenic

Uncombable hair syndrome 3, Uncombable hair syndrome 3

Health Risk

RS770198909

Likely pathogenic

Uncombable hair syndrome 3, Uncombable hair syndrome 3

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS143222885	Health Risk	Conflicting classifications of pathogenicity	—
RS201930497	Health Risk	Likely pathogenic	Uncombable hair syndrome 3, Uncombable hair syndrome 3
RS770198909	Health Risk	Likely pathogenic	Uncombable hair syndrome 3, Uncombable hair syndrome 3