ELFN1 Chromosome 7
Extracellular leucine rich repeat and fibronectin type III domain containing 1
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What This Gene Does
Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in synapse organization. Predicted to act upstream of or within several processes, including chemical synaptic transmission; synapse assembly; and visual perception. Predicted to be located in dendrite and excitatory synapse. Predicted to be active in several cellular components, including axon terminus; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
"Fibronectin type III domain containing|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000225968
Associated Conditions (3)
ELFN1-related disorder
Developmental and Epileptic Encephalopathy with Joint Laxity
DURSUN-OZGUL NEURODEVELOPMENTAL SYNDROME
Key Variants
RS370941771
Conflicting classifications of pathogenicity
ELFN1-related disorder, ELFN1-related disorder
Health Risk
RS558785983
Conflicting classifications of pathogenicity
Health Risk
RS2128605586
Pathogenic/Likely pathogenic
Developmental and Epileptic Encephalopathy with Joint Laxity, DURSUN-OZGUL NEURODEVELOPMENTAL SYNDROME, Developmental and Epileptic Encephalopathy with Joint Laxity
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS370941771 | Health Risk | Conflicting classifications of pathogenicity | ELFN1-related disorder, ELFN1-related disorder |
| RS558785983 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2128605586 | Health Risk | Pathogenic/Likely pathogenic | Developmental and Epileptic Encephalopathy with Joint Laxity, DURSUN-OZGUL NEURODEVELOPMENTAL SYNDROME, Developmental and Epileptic Encephalopathy with Joint Laxity |