KRT10

Highest pathogenic variant AF is 0.00000656918

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000269576

Coding exons

8

Length

4479

Individuals with no LoFs

125732

Homozygous LoFs

0

Heterozygous LoFs

16

Defined

125748

p

0.0000636

Function

FUNCTION: Plays a role in the establishment of the epidermal barrier on plantar skin. {ECO:0000250|UniProtKB:P02535}.;

Disease

DISEASE: Epidermolytic hyperkeratosis (EHK) [MIM:113800]: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. {ECO:0000269|PubMed:10201536, ECO:0000269|PubMed:1380725, ECO:0000269|PubMed:1381287, ECO:0000269|PubMed:21271994, ECO:0000269|PubMed:7507150, ECO:0000269|PubMed:7507152, ECO:0000269|PubMed:7508181, ECO:0000269|PubMed:7512983, ECO:0000269|PubMed:7526210, ECO:0000269|Ref.7}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Ichthyosis annular epidermolytic (AEI) [MIM:607602]: A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months. {ECO:0000269|PubMed:9036939, ECO:0000269|PubMed:9856845}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Erythroderma, ichthyosiform, congenital reticular (CRIE) [MIM:609165]: A rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis. {ECO:0000269|PubMed:20798280}. Note=The disease is caused by mutations affecting the gene represented in this entry.;