PERP p53 apoptosis effector related to PMP22
Gene ID: 64065, updated on 5-Mar-2024Gene type: protein coding
Also known as: THW; KCP1; EKVP7; OLMS2; PIGPC1; KRTCAP1; dJ496H19.1
- See all available tests in GTR for this gene
- Go to complete Gene record for PERP
- Go to Variation Viewer for PERP variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Erythrokeratodermia variabilis et progressiva 7 | See labs |
Genetic variants associated with disordered eating. GeneReviews: Not available | |
Olmsted syndrome 2 | See labs |
Genomic context
- Location:
- 6q23.3
- Sequence:
- Chromosome: 6; NC_000006.12 (138088505..138107419, complement)
- Total number of exons:
- 3
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for PERP variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- SNP: GeneViewSNPs linked from GeneView
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