PERP

Chr 6q23.3

p53 apoptosis effector related to PMP22

Aliases:: PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1
MANE:: ENST00000421351.4

OMIM: 609301 ↗NCBI: 64065 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PERP · Q96FX8

v62025-08-01

Predicted Aligned Error matrix for PERP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.3/ 100

Confident

193 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)34%
Low(50–70)20%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ichthyosis and erythrokeratoderma
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar keratodermas
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

erythrokeratodermia variabilis et progressiva 7
0.64
Olmsted syndrome 2
0.63
Olmsted syndrome 1
0.62
ichthyosis
0.47
Olmsted syndrome
0.46
tinea pedis
0.43
hereditary disease
0.19
erythrokeratodermia variabilis
0.19
esophageal ulcer
0.17
neoplasm
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

p53 apoptosis effector related to PMP-22

Component of intercellular desmosome junctions (By similarity). Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly (By similarity). Thereby plays a role in barrier function of the skin against infection (By similarity). Plays a role in mammary epithelial tissue homeostasis and remodeling during and after pregnancy, potentially via its involvement in desmosome cell-cell junctions (By similarity). Required for tooth enamel development via facilitating desmosome-mediated ameloblast adhesion to the stratum intermedium during the transitional stage of amelogenesis (By similarity). May also play a role in downstream transcriptional regulation of other genes involved in amelogenesis such as AMBN, ENAM, MMP20 and KLK4 (By similarity). Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity). Positively regulates apoptosis in T-helper 17 (Th17) cell populations via caspase-dependent signaling (By similarity). Promotes neutrophil transepithelial migration in response to chemoattractants such as hepoxilin A3 (HXA3), N-Formylmethionyl-leucyl-phenylalanine (fMLP) and CXCL8/IL-8 (PubMed:25486861). Required for neutrophil transepithelial migration in response to S.typhimurium infection (PubMed:25486861). May act as a positive regulator of endothelial cell apoptosis in response to blood flow-derived shear stress (By similarity)