Alias |
- CK16
- K1CP
- KRT16A
- NEPPK
- cytokeratin 16
- keratin 16 (focal non-epidermolytic palmoplantar keratoderma)
- keratin, type I cytoskeletal 16
- Keratin, type I cytoskeletal 16 (Cytokeratin 16) (K16) (CK 16).
|
Description
(According to
SwissProt) |
- 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.
|
Chromosomal location
(According to
LocusLink, Genatlas, CGAP, progenetix) |
- Location: 17q21.2
- Orientation: minus strand
- Size: 2987 bp
- 8 exons
- DNA sequence (Human):NC_000017.
|
Mutations & SNP
(According
to HGMD, OrCGBD, SNP) |
|
mRNA
(According
to CGED,
OrCGBD) |
|
Protein
(According to
SwissProt, Pfam, Swiss2D, PDB, dbPTM) |
|
Pathway & protein interactions
(According to BioCarta, DIP) |
Pathway:
Protein
interactions:
|
Tissue
(According to
GeneNote -
expression
array results) |
|
Clinical
(According to
Cancer Genetics, OMIM) |
|