PERP - p53 apoptosis effector related to PMP22 Gene

Homo sapiens

Also known as THW; KCP1; EKVP7; OLMS2; PIGPC1; KRTCAP1; dJ496H19.1

Gene ID: 64065 | Gene type: protein coding

About PERP

Cytogenetic location: 6q23.3 Genomic coordinates (GRCh38): 6:138,088,505-138,107,419 (from NCBI)

This gene has 1 transcript (splice variant), 235 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in skin (RPKM 558.0), esophagus (RPKM 335.7) and 6 other tissues.

Summary

Involved in activation of cysteine-type endopeptidase activity. Predicted to be located in plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. [provided by Alliance of Genome Resources, Apr 2022]

PERP Products(1)

mRNA	Protein	Name
NM_022121.5	NP_071404.2	p53 apoptosis effector related to PMP-22

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25486861	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in activation of cysteine-type endopeptidase activity	IDA IDA: Inferred from direct assay	18387192	GOA
involved in positive regulation of neutrophil chemotaxis	IMP IMP: Inferred from mutant phenotype	25486861	GOA
involved in positive regulation of proteolysis	IDA IDA: Inferred from direct assay	18387192	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PERP Protein Structure

PMP22_Claudin

0
100
193 a.a.

Protein Preferred Names

Protein Names

p53 apoptosis effector related to PMP-22

1110017A08Rik

Related Diseases

Diseases

Alias

Erythrokeratodermia Variabilis Et Progressiva 7

EKVP7

Olmsted Syndrome 2

OLMS2	Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques 2
Ppkm2

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome	Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques
Palmoplantar And Periorificial Keratoderma	Olms

Alopecia

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Aec Syndrome	AEC
Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome	Seres-Santamaria Arimany Muniz Syndrome
Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects	Ankyloblepharon Ectodermal Defects Cleft Lip/Palate
Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate	Rapp-Hodgkin Syndrome

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10335	PERP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PERP	MGD	MGI:1929938
Canis familiaris	PERP	VGNC	VGNC:44424
Macaca mulatta	PERP	VGNC	VGNC:75818
Felis catus	PERP	VGNC	VGNC:64113
Rattus norvegicus	PERP	RGD	RGD:1310294
Others	PERP	NCBI

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