KRT6A - keratin 6A Gene

Homo sapiens

Also known as K6A; K6C; K6D; PC3; CK6A; CK6C; CK6D; CK-6C; CK-6E; KRT6C; KRT6D

Gene ID: 3853 | Gene type: protein coding

About KRT6A

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:52,487,176-52,493,257 (from NCBI)

This gene has 5 transcripts (splice variants), 139 orthologues, 68 paralogues and is associated with 3 phenotypes. Restricted expression toward esophagus (RPKM 2985.3).

Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, Peptides from the C-terminal region of the protein have antimicrobial activity against Bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]

KRT6A Products(1)

mRNA	Protein	Name
NM_005554.4	NP_005545.1	keratin, type II cytoskeletal 6A

KRT6A Protein Structure

Filament

0
100
200
300
400
500
564 a.a.

Protein Preferred Names

Protein Names

keratin, type II cytoskeletal 6A

cytokeratin 6A

Related Diseases

Diseases

Alias

Pachyonychia Congenita 3

PC3	Pachyonychia Congenita, Type 3
Pc-3

Pachyonychia Congenita 1

Pachyonychia Congenita	Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Syndrome	PC1
Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Congenital Pachyonychia
Pachyonychia Congenita, Type 1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
Jadassohn-Lewandowsky Syndrome, Formerly	Jackson-Lawler Type Pachyonychia Congenita
Pachyonychia Congenita Type 1	Jackson-Lawler Syndrome
Jadassohn-Lewandowski Syndrome	Pc
Pachyonychia Congenita Jackson-Lawler Type	Pachyonychia Congenita Jadassohn-Lewandowsky Type
Pachyonychia Congenita Jackson Lawler Type	Pc-1
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita, Type 2

Cheilitis

Glossitis

Inflammation Of Tongue	Tongue Inflammation
Glazed Tongue

Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Focal Nonepidermolytic Palmoplantar Keratoderma	Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma
FNEPPK1	Ppkfne
Keratoderma, Focal Nonepidermolytic Palmoplantar	Palmoplantar Keratoderma, Nonepidermolytic, Focal
Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas	Fneppk
Focal Nonepidermolytic Palmoplantar Keratoderma 1	Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1

Focal Palmoplantar Keratoderma

Focal Ppk	Focal Keratosis Palmoplantaris
Focal Palmoplantar Hyperkeratosis

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

Median Rhomboid Glossitis

Persistent Tuberculum Impar	Glossitis Rhomboidea Mediana
Superficial Midline Glossitis

Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse

PPKNEFD	Focal Or Diffuse Nonepidermolytic Palmoplantar Keratoderma
Autosomal Dominant Focal Non-Epidermolytic Palmoplantar Keratoderma With Plantar Blistering	Palmoplantar Keratoderma, Non-Epidermolytic, Focal Or Diffuse
Nonepidermolytic Focal Or Diffuse Palmoplantar Keratoderma	Keratoderma, Palmoplantar, Nonepidermolytic, Focal Or Diffuse

Steatocystoma Multiplex

Sebocystomatosis	Multiple Sebaceous Cysts
Multiplex Steatocystoma	Sebaceous Cysts, Multiple
SM

White Sponge Nevus 1

White Sponge Nevus Of Cannon	Leukokeratosis, Hereditary Mucosal
Hereditary Mucosal Leukokeratosis	White Sponge Nevus
WSN1	Wsn
Cannon'S Disease	Familial White Folded Mucosal Dysplasia
Hereditary Leukokeratosis	Hereditary Oral Keratosis
Leukokeratosis Of Oral Mucosa	Nevus Of Cannon
White Folded Gingivostomatosis	White Gingivostomatitis
White Sponge Naevus	White Sponge Nevus Of Mucosa

Palmoplantar Keratoderma, Epidermolytic

Epidermolytic Palmoplantar Keratoderma	EPPK
Keratosis Palmaris Et Plantaris Familiaris	Tylosis
Keratosis Of Greither	Diffuse Nonepidermolytic Palmoplantar Keratoderma
Keratoderma, Palmoplantar, Epidermolytic	Unna-Thost Palmoplantar Keratoderma
Epidermolytic Palmoplantar Keratoderma Of Voerner	Ppke
Keratoderma, Epidermolytic Palmoplantar	Palmoplantar Keratoderma, Vorner Type
Hyperkeratosis, Localized Epidermolytic	Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type
Epidermolytic Palmoplantar Keratoderma Of Vörner	Hyperkeratosis Palmoplantar Localized Epidermolytic
Diffuse Neppk	Ppk Diffusa Circumscripta
Thost-Unna Disease	Thost-Unna Palmoplantar Keratoderma
Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type	Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type
Epidermolytic Palmoplantar Keratoderma Of Vorner	Ehppk
Epidermolytic Unna-Thost Disease	Localized Epidermolytic Hyperkeratosis
Palmoplantar Keratoderma Vorner Type	Unilateral Palmoplantar Verrucous Nevus
UPVN	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis	Palmoplantar Keratoderma, Nonepidermolytic
Epidermolytic Palmoplantar Keratoderma Vorner Type	Type B Tylosis
Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas	Type A Tylosis

Corneal Dystrophy

Epidermoid Cysts

Epidermoid Cyst	Sebaceous Cyst
Epidermal Inclusion Cyst	Epidermal Cyst

Monilethrix

Beaded Hair	MNLIX
Nodose Hair	Moniliform Hair Syndrome

Palmoplantar Keratosis

Palmoplantar Keratoderma	Keratosis Palmaris Et Plantaris
Palmo-Plantar Keratodermas	Keratoderma, Palmoplantar
Keratoderma Palmoplantar	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis Of Palms And Soles	Palmoplantar Hyperkeratosis

Skin Disease

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

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma	NEPPK
Tylosis	Unna-Thost Syndrome
Keratoderma, Palmoplantar, Diffuse	Ppkne
Keratoderma, Nonepidermolytic Palmoplantar	Diffuse Nonepidermolytic Palmomplantar Keratoderma
Thost-Unna Syndrome	Non-Epidermolytic Palmoplantar Keratoderma
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	Diffuse Palmoplantar Keratoderma, Bothnian Type
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Krt1-Related Diffuse Neppk
Keratoderma, Palmoplantar, Non-Epidermolytic	Nonepidermolytic Unna-Thost Disease
Non-Epidermolytic Unna-Thost Disease	Keratoderma, Palmoplantar, Nonepidermolytic
Hyperkeratosis

Epidermolysis Bullosa Simplex

Ebs	Epidermolysis Bullosa Intraepidermic
Epidermolytic Epidermolysis Bullosa

Familial Woolly Hair Syndrome

Wooly Hair	Familial Wooly Hair Syndrome
Hereditary Woolly Hair Syndrome	Hereditary Wooly Hair Syndrome
Woolly Hair	Syndrome With Woolly Hair
Wooly Hair Syndrome

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07458	KRT6A Human Pre-designed siRNA Set A		/	Unkown

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