Laboratory of Ion Channel Research

The TRPML subfamily is named after the human protein mucolipin 1 (TRPML1), a 580–amino acid long protein probably restricted to intracellular vesicles.

• TRPML1 contains two proline-rich regions, a lipase serine active site in the N-terminus and a dileucine motif suggestive of lysosomal targeting in the C-terminus. Mutations in TRPML1 cause mucolipidosis type IV (MLIV), a rare autosomal recessive lysosomal storage disease that affects brain, eyes, and gastric function.
• TRPML2 and 3 were also identified. TRPML3 is present in the cytoplasm of hair cells and the plasma membrane of stereocilia.