EPS8L3

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Description

The EPS8L3 (EPS8 signaling adaptor L3) is a protein-coding gene located on chromosome 1.

The EPS8L3 gene encodes a protein that is similar to epidermal growth factor receptor pathway substrate 8 (EPS8), a protein involved in the epidermal growth factor receptor pathway. The exact function of this protein is currently unknown. Different versions of the protein can be produced due to alternative splicing.

EPS8L3 is also known as EPS8R3, HYPT5.

Associated Diseases

• Marie Unna hereditary hypotrichosis
• Hypotrichosis 5