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Gene

perp

ID
ZDB-GENE-050104-1
Name
p53 apoptosis effector related to pmp22
Symbol
perp Nomenclature History
Previous Names
  • fk24g11
  • wu:fk24g11
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Acts upstream of or within apoptotic process involved in blood vessel morphogenesis; regulation of apoptotic process; and response to UV. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in cell-cell junction. Is expressed in several structures, including EVL; axial chorda mesoderm; digestive system; epidermis; and nervous system. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. Orthologous to human PERP (p53 apoptosis effector related to PMP22).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from Nowak et al., 2005
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Nowak et al., 2005
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With perp Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Erythrokeratodermia variabilis et progressiva 7 619209
Olmsted syndrome 2 619208
Associated With perp Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR004031 PMP-22/EMP/MP20/Claudin superfamily
Family IPR015664 P53-induced protein
Domain Details Per Protein
Protein Length P53-induced protein PMP-22/EMP/MP20/Claudin superfamily
UniProtKB:E9QHT9 185
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations