Envoplakin is a protein that in humans is encoded by the EVPL gene. [5] [6] [7]
Envoplakin is a protein that in humans is encoded by the EVPL gene. [5] [6] [7]
Keratin 1 is a member of the keratin family. It is specifically expressed in the spinous and granular layers of the epidermis with family member keratin 10. Mutations in this gene have been associated with the variants of bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected.
Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.
Protein-glutamine gamma-glutamyltransferase K is a transglutaminase enzyme that in humans is encoded by the TGM1 gene.
Tyrosine-protein phosphatase non-receptor type 6, also known as Src homology region 2 domain-containing phosphatase-1 (SHP-1), is an enzyme that in humans is encoded by the PTPN6 gene.
Inhibitor of nuclear factor kappa-B kinase subunit alpha (IKK-α) also known as IKK1 or conserved helix-loop-helix ubiquitous kinase (CHUK) is a protein kinase that in humans is encoded by the CHUK gene. IKK-α is part of the IκB kinase complex that plays an important role in regulating the NF-κB transcription factor. However, IKK-α has many additional cellular targets, and is thought to function independently of the NF-κB pathway to regulate epidermal differentiation.
AP-2 complex subunit alpha-1 is a protein that in humans is encoded by the AP2A1 gene.
Vasodilator-stimulated phosphoprotein is a protein that in humans is encoded by the VASP gene.
Alpha-actinin-4 is a protein that in humans is encoded by the ACTN4 gene.
Elafin, also known as peptidase inhibitor 3 or skin-derived antileukoprotease (SKALP), is a protein that in humans is encoded by the PI3 gene.
Involucrin is a protein component of human skin and in humans is encoded by the IVL gene. In binding the protein loricrin, involucrin contributes to the formation of a cell envelope that protects corneocytes in the skin.
Laminin subunit alpha-1 is a protein that in humans is encoded by the LAMA1 gene.
S100 calcium-binding protein A11 (S100A11) is a protein that in humans is encoded by the S100A11 gene.
Periplakin is a protein that in humans is encoded by the PPL gene.
Small proline-rich protein 3 is a protein that in humans is encoded by the SPRR3 gene, which is found within the epidermal differentiation complex (EDC).
Loricrin is a protein that in humans is encoded by the LOR gene.
Cornifin-B is a protein that in humans is encoded by the SPRR1B gene.
Cornifin-A is a protein that in humans is encoded by the SPRR1A gene.
Small proline-rich protein 2A is a protein that in humans is encoded by the SPRR2A gene.
Sciellin is a protein that in humans is encoded by the SCEL gene.
Trichohyalin is a protein that in mammals is encoded by the TCHH gene.
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