Home Department: Biology
Mentor: Rajat Rohatgi (Biochemistry and Medicine - Oncology)

“Understanding the Biochemistry Behind Human Mutations in Evc2”

The Hedgehog signaling pathway is essential for vertebrate embryonic development. The Evc2 protein is a key player in Hedgehog signaling, and human mutations in Evc2 cause skeletal birth defects. Evc2 protein contains a sequence of 43 amino acids called the Weyers peptide which is a hot spot for disease-causing mutations. In Amisha’s project, she will study the function of the Weyers peptide by generating known mutations and then determining how they inhibit Hedgehog signaling. This would contribute to our understanding of the Evc2 protein, whose mechanistic role in Hedgehog signaling critical for embryonic development remains unknown.