KRT1 Chromosome 12

Keratin 1

44 variants 44 Health Risk

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What This Gene Does

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. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Keratins, type II

Locus Type

gene with protein product

Location

12q13.13

Ensembl

ENSG00000167768

Associated Conditions (15)

Diffuse nonepidermolytic palmoplantar keratoderma

Epidermolytic ichthyosis

KRT1-related disorder

Inborn genetic diseases

Annular epidermolytic ichthyosis

Palmoplantar keratoderma

epidermolytic

Ichthyosis

annular epidermolytic

Congenital reticular ichthyosiform erythroderma

Epidermolytic hyperkeratosis 1

Ichthyosis hystrix of Curth-Macklin

Keratosis palmoplantaris striata 3

6 conditions

Key Variants

RS139428176

Conflicting classifications of pathogenicity

Diffuse nonepidermolytic palmoplantar keratoderma, Epidermolytic ichthyosis, KRT1-related disorder

Health Risk

RS140098565

Conflicting classifications of pathogenicity

Epidermolytic ichthyosis, Diffuse nonepidermolytic palmoplantar keratoderma, Inborn genetic diseases

Health Risk

RS184313837

Conflicting classifications of pathogenicity

Health Risk

RS201584652

Conflicting classifications of pathogenicity

Health Risk

Health Risk

Health Risk

Health Risk

Annular epidermolytic ichthyosis, Annular epidermolytic ichthyosis

Health Risk

Health Risk

Health Risk

Health Risk

Health Risk

All Variants (44)

RSID	Category	Clinical Significance	Conditions
RS139428176	Health Risk	Conflicting classifications of pathogenicity	Diffuse nonepidermolytic palmoplantar keratoderma, Epidermolytic ichthyosis, KRT1-related disorder
RS140098565	Health Risk	Conflicting classifications of pathogenicity	Epidermolytic ichthyosis, Diffuse nonepidermolytic palmoplantar keratoderma, Inborn genetic diseases
RS184313837	Health Risk	Conflicting classifications of pathogenicity	—
RS201584652	Health Risk	Conflicting classifications of pathogenicity	KRT1-related disorder, Inborn genetic diseases, KRT1-related disorder
RS1367352545	Health Risk	Likely pathogenic	—
RS1555171527	Health Risk	Likely pathogenic	—
RS1592264179	Health Risk	Likely pathogenic	—
RS1941559064	Health Risk	Likely pathogenic	Annular epidermolytic ichthyosis, Annular epidermolytic ichthyosis
RS199877663	Health Risk	Likely pathogenic	—
RS2121004044	Health Risk	Likely pathogenic	—
RS2121007459	Health Risk	Likely pathogenic	—
RS2121008110	Health Risk	Likely pathogenic	—
RS267607428	Health Risk	Likely pathogenic	—
RS267607430	Health Risk	Likely pathogenic	—
RS58420087	Health Risk	Likely pathogenic	Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS58928370	Health Risk	Likely pathogenic	Palmoplantar keratoderma, epidermolytic, 2
RS59429455	Health Risk	Likely pathogenic	Epidermolytic ichthyosis, KRT1-related disorder, Annular epidermolytic ichthyosis
RS60297570	Health Risk	Likely pathogenic	—
RS137853224	Health Risk	Pathogenic	Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS1555171158	Health Risk	Pathogenic	Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma
RS2121000699	Health Risk	Pathogenic	Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS2498629456	Health Risk	Pathogenic	Ichthyosis hystrix of Curth-Macklin, Ichthyosis hystrix of Curth-Macklin
RS2498629912	Health Risk	Pathogenic	Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS2498630516	Health Risk	Pathogenic	Ichthyosis hystrix of Curth-Macklin, Ichthyosis hystrix of Curth-Macklin
RS2498637666	Health Risk	Pathogenic	—
RS2498637710	Health Risk	Pathogenic	Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS267607421	Health Risk	Pathogenic	Palmoplantar keratoderma, epidermolytic, 2
RS267607422	Health Risk	Pathogenic	Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS267607424	Health Risk	Pathogenic	Diffuse nonepidermolytic palmoplantar keratoderma, Diffuse nonepidermolytic palmoplantar keratoderma
RS57650413	Health Risk	Pathogenic	Keratosis palmoplantaris striata 3, Keratosis palmoplantaris striata 3
RS57695159	Health Risk	Pathogenic	Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS57959072	Health Risk	Pathogenic	Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS57977969	Health Risk	Pathogenic	Diffuse nonepidermolytic palmoplantar keratoderma, Diffuse nonepidermolytic palmoplantar keratoderma
RS58373389	Health Risk	Pathogenic	Ichthyosis hystrix of Curth-Macklin, Ichthyosis hystrix of Curth-Macklin
RS58949162	Health Risk	Pathogenic	—
RS59022806	Health Risk	Pathogenic	—
RS59089201	Health Risk	Pathogenic	Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS59151464	Health Risk	Pathogenic	Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS59169454	Health Risk	Pathogenic	Ichthyosis hystrix of Curth-Macklin, Ichthyosis hystrix of Curth-Macklin
RS60447237	Health Risk	Pathogenic	Diffuse nonepidermolytic palmoplantar keratoderma, Diffuse nonepidermolytic palmoplantar keratoderma
RS61218439	Health Risk	Pathogenic	Ichthyosis, annular epidermolytic, 2
RS61616632	Health Risk	Pathogenic	Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS1555171247	Health Risk	Pathogenic/Likely pathogenic	6 conditions, 6 conditions
RS57837128	Health Risk	Pathogenic/Likely pathogenic	Annular epidermolytic ichthyosis, Ichthyosis, annular epidermolytic