Bioinformatics Database
PERP: p53 apoptosis effector related to PMP22
3D Protein Structure Viewer
Cellular Process
Enamel formation
Gene Name
PERP: p53 apoptosis effector related to PMP22
Gene ID
64065
Gene Sequence
General Description
The PERP gene encodes a p53 /p63 tetraspan membrane protein that is an apoptosis mediator, and a component of desmosomes and other cell junctions (Duchatelet et al., 2019).
Alternative titles; symbols
THW Keratinocyte-Associated Protein 1; KRTCAP1 KCP1
Chromosome
Chromosome 6
Cytogenetic location
6q23.3
Encoded Protein
p53 apoptosis effector related to PMP-22
Function of the protein in oral and tooth development
Teraspanin transmembrane protein, Perp (P53 apoptosis effector related to PMP22), found in the plasma membrane as a component of the desmosome, is involved in the morphogenesis of the epithelium and the enamel formation of the incisor. Knock-down studies by Neupane et al., (2014) indicate that Perp might play important roles in the formation and integration of stellate reticulum, dental lamina structure and enamel formation through signaling interactions with the enamel knot and desmosome-related signaling molecules at the cap stage of lower molar development.
Dental and Oral Diseases
Protein Sequence
>NP_071404.2 p53 apoptosis effector related to PMP-22 [Homo sapiens]
MIRCGLACERCRWILPLLLLSAIAFDIIALAGRGWLQSSDHGQTSSLWWKCSQEGGGSGSYEEGCQSLME
YAWGRAAAAMLFCGFIILVICFILSFFALCGPQMLVFLRVIGGLLALAAVFQIISLVIYPVKYTQTFTLH
ANPAVTYIYNWAYGFGWAATIILIGCAFFFCCLPNYEDDLLGNAKPRYFYTSA
Mutations
Related Literature
Duchatelet et al.,(2019): https://doi.org/10.1016/j.jid.2018.08.026
Neupane et al., (2014): https://doi.org/10.1007/s00441-014-1908-7
