Gene: KRT5

Alternate names for this Gene: CK5|DDD|DDD1|EBS2|K5|KRT5A

Gene 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. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.13

Description of this Gene: keratin 5

Type of Gene: protein-coding

rs11170164 in KRT5 gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

rs11170164 in KRT5 gene and Basal Cell Neoplasm PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

rs11170164 in KRT5 gene and Basal cell carcinoma PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

PMID 25855136 2015 New basal cell carcinoma susceptibility loci.

rs121912476 in KRT5 gene and EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 PMID 11973334 2002 Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.

rs267607456 in KRT5 gene and Epidermolysis Bullosa Herpetiformis Dowling-Meara PMID 8757772 1996 A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.

PMID 12655565 2003 Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

PMID 9036937 1997 Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.

PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 10730767 2000 Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.

PMID 1372711 1992 A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.

PMID 9989794 1999 Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

PMID 9406827 1997 A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.

PMID 16786515 2006 Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

PMID 21623745 2011 Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

rs1565593355 in KRT5 gene and Epidermolysis Bullosa Simplex PMID 16465624 2006 Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

PMID 20199538 2010 Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

rs121912475 in KRT5 gene and Epidermolysis Bullosa Simplex Kobner PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 7534039 1995 Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.

PMID 7686424 1993 Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.

PMID 11407988 2001 A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.

PMID 21623745 2011 Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

PMID 9989794 1999 Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

PMID 9740251 1998 A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.

rs57499817 in KRT5 gene and Epidermolysis bullosa simplex with mottled pigmentation PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 21623745 2011 Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

PMID 10494094 1999 Recently, a 71C-->T transition in the keratin 5 gene (KRT5) causing a P24L substitution was identified in some patients with EBS-MP.

PMID 8799157 1996 The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.

rs267607457 in KRT5 gene and Weber-Cockayne Syndrome PMID 12707098 2003 Epidermolysis bullosa simplex in Israel: clinical and genetic features.

PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 15347343 2004 A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.

PMID 16786515 2006 Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

PMID 7520042 1994 Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

PMID 8595431 1995 Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.

PMID 7688477 1993 The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

PMID 15140024 2004 A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.

PMID 12655565 2003 Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

PMID 8807337 1996 Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.

PMID 7506097 1993 Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

PMID 14723728 2004 A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.

PMID 21623745 2011 Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

PMID 10782015 2000 K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).

PMID 9804357 1998 Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.