Cytokeratin 14 Mouse Monoclonal Antibody [A2C12]

Function

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. The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro. Expressed in the corneal epithelium (at protein level). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1A is an autosomal dominant form characterized by generalized intraepidermal skin blistering that begins and is very prominent at birth. EBS1A may be life-threatening in the first year of life. Tendency to blistering diminishes in adolescence.

Background References

1. Bousquet O. et al. The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro. J. Cell Biol. 155:747-754(2001).

2. Schweizer J et al. "New consensus nomenclature for mammalian keratins". The Journal of Cell Biology. 174 (2): 169–74(2006).

Sequence Similarity

Belongs to the intermediate filament family.

Tissue Specificity

Expressed in the corneal epithelium (at protein level). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen.

Post-translational Modification

A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus.; Ubiquitinated by the BCR(KLHL24) E3 ubiquitin ligase complex.

Subcellular Location

Cytoplasm, Nucleus.

UNIPROT

SwissProt: P02533 Human

Synonyms