TCHH - trichohyalin Gene

Homo sapiens

Also known as THH; THL; TRHY; UHS3

Gene ID: 7062 | Gene type: protein coding

About TCHH

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:152,106,317-152,115,444 (from NCBI)

This gene has 1 transcript (splice variant), 18 orthologues and is associated with 1 phenotype. Biased expression in placenta (RPKM 1.2), spleen (RPKM 1.1) and 13 other tissues.

Summary

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]

TCHH Products(1)

mRNA	Protein	Name
NM_007113.4	NP_009044.2	trichohyalin

TCHH Protein Structure

S_100

0
300
600
900
1200
1500
1800
1943 a.a.

Protein Preferred Names

Protein Names

trichohyalin

Related Diseases

Diseases

Alias

Uncombable Hair Syndrome 3

UHS3

Pilomatrixoma

Pilomatricoma	PTR
Epithelioma Calcificans Of Malherbe	Benign Pilomatricoma
Calcifying Epithelioma Of Malherbe	Pilomatricoma, Somatic
Benign Pilomatrixoma	Malherbe Calcifying Epithelioma

Cystic Basal Cell Carcinoma

Skin Cystic Basal Cell Carcinoma

Superficial Urinary Bladder Cancer

Superficial Urinary Bladder Carcinoma

Carcinoma Of Urinary Bladder, Superficial

Anterior Spinal Artery Syndrome

Anterior Spinal Artery Occlusion Syndrome

Brown-Sequard Syndrome

Brown-Squard Syndrome	Hemicord Syndrome
Hemiparaplegic Syndrome	Hemispinal Cord Syndrome
Brown-Séquard Syndrome

Inflamed Seborrheic Keratosis

Alopecia Areata

Aa	Alopecia Celsi
Alopecia Circumscripta	Cazenave'S Vitiligo
Celsus' Vitiligo	Diffuse Alopecia
Jonston'S Alopecia	Marginal Alopecia
Pseudopelade	Circumscribed Alopecia
Alopecia Cicatrisata	Patchy Alopecia
Alopecia	Aa - [Alopecia Areata]
Pelade

Keratosis Pilaris Atrophicans Faciei

Gummatous Syphilis

Hair Follicle Neoplasm

Hair Matrix Neoplasm

Hair Matrix Tumour

Pilar Sheath Acanthoma

Acanthoma, Pilar Sheath

Adenoid Basal Cell Carcinoma

Skin Adenoid Basal Cell Carcinoma

Basal Cell Carcinoma - Adenoid

Tabes Dorsalis

Posterior Spinal Sclerosis	Tabes Dorsalis - Neurosyphilis
Syphilitic Myelopathy

Alopecia

Follicular Infundibulum Tumor

Tumor Of Follicular Infundibulum	Follicular Infundibulum Tumour
Neoplasm Of The Follicular Infundibulum	Tumour Of Follicular Infundibulum

Meningovascular Neurosyphilis

Arboleda-Tham Syndrome

Kat6a Syndrome	Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
ARTHS	Mrd32
Mental Retardation, Autosomal Dominant 32, Formerly	Mrd32, Formerly
Autosomal Dominant Mental Retardation 32	Autosomal Dominant Non-Syndromic Intellectual Disability 32
Arboleda-Tham

Keratosis

Actinic Keratosis

Hyperkeratosis

Epidermoid Cysts

Epidermoid Cyst	Sebaceous Cyst
Epidermal Inclusion Cyst	Epidermal Cyst

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma	Bullous Ichthyosiform Erythroderma
EHK	Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
Bcie	Bie
Epidermolytic Ichthyosis	Ichthyosis Bullosa Of Siemens
Superficial Epidermolytic Ichthyosis	Hyperkeratosis, Epidermolytic
Congenital Bullous Ichthyosiform Erythroderma	Bullous Type Ichthyosis
Epidermolytic Palmoplantar Hyperkeratosis	Bullous Ichthyosiform Erythroderma Congenita
Bullous Erythroderma Ichthyosiforme	Sei
Epidermolytic Hyperkeratosis Late-Onset	Epidermolytic Hyperkeratosis, Late-Onset

Cardiovascular Syphilis

Syphilis, Cardiovascular

Tertiary Neurosyphilis

Late Neurosyphilis

Late Syphilis Of Central Nervous System Nos

Fraser Syndrome 1

Fraser Syndrome	Cryptophthalmos With Other Malformations
Cryptophthalmos Syndrome	FRASRS1
Cryptophthalmos-Syndactyly Syndrome	Fraser-Francois Syndrome
Cyclopism	Meyer-Schwickerath'S Syndrome
Ulrich-Feichtiger Syndrome	Cryptophthalmos Syndactyly Syndrome
Fraser'S Syndrome	Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome

Loose Anagen Hair Syndrome

Loose Anagen Syndrome

LAHS

Clear Cell Acanthoma

Acanthoma	Pale Acanthoma
Acanthoma, Clear Cell

Tertiary Syphilis

Late Syphilis	Syphilis, Tertiary
Late Syphilis, Unspecified	Late Tertiary Syphilis

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Large Cell Acanthoma

Ichthyosis Vulgaris

Ichthyosis Simplex	Dominant Congenital Ichthyosiform Erythroderma
Common Ichthyosis	Fish Scale Disease
VI	Ichthyoses
Congenital Ichthyosis

Basal Cell Carcinoma

Basal Cell Cancer	Basal Cell Neoplasm
Basal Cell Carcinoma Of Skin	Malignant Basal Cell Tumor
Basal Cell Tumor	Epithelioma Basal Cell
Malignant Basal Cell Neoplasm	Rodent Ulcer
Carcinoma Basal Cell	Neoplasms, Basal Cell
Basal Cell Carcinomas	Experimental Organism Basal Cell Carcinoma
Nodulo-Ulcerative Basal Cell Carcinoma	Basalioma
Basal Cell Epithelioma Of Skin	Bcc - [Basal Cell Carcinoma] Of Skin
Rodent Ulcer Of Skin	Rodent Ulcer Of Unspecified Site
Basal Cell Epithelioma Of Unspecified Site

Hair Disease

Hair Diseases	Hair Anomaly
Hair Disorder	Hair Problems

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14312	TCHH Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TCHH	RGD	RGD:1309635
Mus musculus	TCHH	MGD	MGI:2177944
Macaca mulatta	TCHH	VGNC	VGNC:106515
Bos taurus	TCHH	VGNC	VGNC:106970