TCHH - trichohyalin Gene

Also Known as THH; THL; TRHY; UHS3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7062

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

TCHH Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89937	Trichohyalin Antibody (YA9281)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

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