|
- CK14
- EBS3
- EBS4
- cytokeratin 14
- keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
- Keratin, type I cytoskeletal 14 (Cytokeratin 14) (K14) (CK 14).
|
|
This gene
encodes a member of the keratin family, the most diverse group of intermediate filaments.
This gene product, a type I keratin, is usually found as a heterotetramer with two keratin
5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells.
Mutations in the genes for these keratins are associated with epidermolysis bullosa
simplex. At least one pseudogene has been identified at 17p12-p11.
|
|
- Location: 17q21.2
- Orientation: minus strand
- Size: 4615 bp
- 8 exons
- DNA sequence (Human): NC_000017
|
- Mutations and SNPs (According
to HGMD and SNP)
|
|
|
|
|
- Size: 471 amino acids; 51490 Da
- Catalytic activity:
Subcellular
location:
Protein
domains
|
|
Pathway:
Protein
interactions:
|
|
Tissue expression: PubMed
Reference
Human Protein Atlas (HPA): CAB000134
|
|
|