Multiple epidermal growth factor-like domains 8 (MEGF8)

Multiple epidermal growth factor-like domains 8 (MEGF8) is a large single-pass transmembrane protein encoded by the MEGF8 gene and composed of either 2845 or 2778 amino acids (human isoforms). It features a diverse set of domains, including several EGF-like domains known for their roles in protein-protein interactions and signaling, a CUB domain typically implicated in developmental processes, and motifs such as the kelch repeat and laminin EGF-like modules that influence protein structure and cellular interactions. MEGF8 is well conserved across animal species and is expressed during critical periods of development, contributing to body patterning and limb formation. Mutations in MEGF8 (particularly SNPs) are causative for Carpenter syndrome subtype 2, a rare congenital disorder with multisystem involvement. There is currently no evidence that MEGF8 acts as a direct pharmacological or therapeutic target, nor that it serves as a biomarker in clinical practice.

Other names

MEGF8Multiple epidermal growth factor-like domains 8C19orf49

Not applicable; drugs targeting MEGF8 are not reported