EPS8L1

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Description

The EPS8L1 (EPS8 signaling adaptor L1) is a protein-coding gene located on chromosome 19.

The EPS8L1 gene encodes an enzyme that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of EPS8L1 is not fully understood. Multiple transcript variants exist that produce different isoforms of the protein.

EPS8L1 is also known as DRC3, EPS8R1, PP10566.

Associated Diseases

• X-linked retinal dysplasia
• retinitis pigmentosa and erythrocytic microcytosis
• severe early-childhood-onset retinal dystrophy
• hemoglobin D disease
• X-linked retinoschisis
• COVID-19
• overhydrated hereditary stomatocytosis
• IRIDA syndrome
• Rh deficiency syndrome
• birdshot chorioretinopathy
• late-onset retinal degeneration
• retinitis pigmentosa
• exudative vitreoretinopathy 2, X-linked
• X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
• thrombocytopenia with congenital dyserythropoietic anemia