Clathrin heavy chain-like 1 (CLTCL1)

Clathrin heavy chain-like 1 (CLTCL1), also known as clathrin heavy chain 2 or CHC22, is a structural protein that is a component of the polyhedral coat of intracellular vesicles and coated pits. It is a member of the clathrin heavy chain family, distinct from the more abundant clathrin heavy chain 1 (CLTC/CHC17). CLTCL1 plays a role in the formation of coated vesicles involved in intracellular trafficking, particularly endosomal pathways and the trafficking of the GLUT4 glucose transporter in muscle and fat tissues. CLTCL1 is expressed at higher levels during human neurodevelopment and is non-redundant for the proper formation of pain- and touch-sensing neurons in the nervous system. Pathogenic mutations in the gene are associated with disorders such as congenital insensitivity to pain, intellectual disability, certain neuropathies, as well as an identified role in autism spectrum disorders. CLTCL1 is not currently considered a classical druggable target such as a receptor or enzyme, and there are no drugs known to act directly on this protein[1][2][3].

Other names

Clathrin heavy chain 2CHC22CLH22CLTCLCLTDCLH-22Clathrin, heavy polypeptide DClathrin heavy chain on chromosome 22