KRT16 keratin 16

Gene ID: 3868, updated on 3-Nov-2024
Gene type: protein coding
Also known as: K16; PC1; CK16; K1CP; NEPPK; FNEPPK; KRT16A

Summary

The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Pachyonychia congenita 1 MedGen: C1706595OMIM: 167200GeneReviews: Pachyonychia Congenita	See labs
Palmoplantar keratoderma, nonepidermolytic, focal 1 MedGen: C4552049OMIM: 613000GeneReviews: Not available	See labs

Genomic context

Location:: 17q21.2

Sequence:: Chromosome: 17; NC_000017.11 (41609778..41612767, complement)

Total number of exons:: 8

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for KRT16 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
Human Intermediate Filament Database KRT16
KRT16 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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