| Description: | This gene encodes a member of the intermediate filamentfamily. Intermediate filamentents, along with microtubules andactin microfilaments, make up the cytoskeleton. The protein encodedby this gene is responsible for maintaining cell shape, integrityof the cytoplasm, and stabilizing cytoskeletal interactions. It isalso involved in the immune response, and controls the transport oflow-density lipoprotein (LDL)-derived cholesterol from a lysosometo the site of esterification. It functions as an organizer of anumber of critical proteins involved in attachment, migration, andcell signaling. Mutations in this gene causes a dominant,pulverulent cataract. |
