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CEBPE - CCAAT enhancer binding protein epsilon
- Synonym(s) : CRP1
- Previous symbols and names : CCAAT/enhancer binding protein (C/EBP), epsilon, CCAAT/enhancer binding protein epsilon
- Type : gene with protein product
- Chromosomal location : 14q11.2
- OMIM: 600749
- HGNC: 1836
- UniProtKB: Q15744
- Genatlas: CEBPE
- Ensembl: ENSG00000092067
- IUPHAR-DB: -
- Reactome: -
- LOVD: CEBPE
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Recurrent infection due to specific granule deficiency
ORPHA:169142 
- Disease-causing germline mutation(s) (gain of function) in CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
ORPHA:566067
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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