Product Overview
Description
CLPP-00150524 is recombinant human KRT14 protein, His tag
Protein Length
Full length protein
Nature
Recombinant Protein
Sequence
MGSSHHHHHHSSGLVPRGSHMTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGAYGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGTGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIESLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN
Sequence Similarities
Belongs to the intermediate filament family.
Predicted Molecular Weight
54 kDa including tags
Target Information
Alternative Names
CK 14; CK-14; ck14; Cytokeratin 14; Cytokeratin-14; Cytokeratin14; Dowling Meara; EBS3; EBS4; Epidermolysis bullosa simplex; K14; K1C14_HUMAN; Keratin; Keratin 14; Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner); Keratin type I cytoskeletal 14; Keratin, type I cytoskeletal 14; Keratin-14; Keratin14; Koebner; Krt 14; Krt14; NFJ; OTTHUMP00000164624; type I cytoskeletal 14
Protein Function
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.
Tissue Specificity
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.
Involvement in Disease
Defects in KRT14 are a cause of epidermolysis bullosa simplex Dowling-Meara type (DM-EBS). DM-EBS is a severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.Defects in KRT14 are a cause of epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS). WC-EBS is a form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.Defects in KRT14 are a cause of epidermolysis bullosa simplex Koebner type (K-EBS). K-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe.Defects in KRT14 are the cause of epidermolysis bullosa simplex autosomal recessive (AREBS). AREBS is an intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet.Defects in KRT14 are the cause of Naegeli-Franceschetti-Jadassohn syndrome (NFJS); also known as Naegeli syndrome. NFJS is a rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects.Defects in KRT14 are the cause of dermatopathia pigmentosa reticularis (DPR). DPR is a rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, noncicatricial alopecia, and nail dystrophy.
Shipping & Handling
Constituents
0.32% Tris HCl, 10% Glycerol (glycerin, glycerine), 2.4% Urea.
Shipping
Shipped at 4 °C.
Storage
Store at -20 °C or -80 °C.
