ELFN2
Description
The ELFN2 (extracellular leucine rich repeat and fibronectin type III domain containing 2) is a protein-coding gene located on chromosome 22.
ELFN2 acts as an inhibitor of protein phosphatase 1 (PP1) complexes, modulating their phosphatase activity.
ELFN2 is also known as LRRC62, PPP1R29.
Associated Diseases
- developmental and epileptic encephalopathy, 9
- intellectual disability, autosomal dominant 50
- 15q11q13 microduplication syndrome
- developmental and epileptic encephalopathy 104
- intellectual disability-epilepsy-extrapyramidal syndrome
- developmental and epileptic encephalopathy, 43
- cortical dysplasia-focal epilepsy syndrome
- intellectual disability-hypotonia-spasticity-sleep disorder syndrome
- intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
- childhood absence epilepsy
- intellectual developmental disorder, X-linked, syndromic, Pilorge type
- behavioral variant of frontotemporal dementia
- Lennox-Gastaut syndrome
