CLTC
MIM.118955 17q23
clathrin heavy polypeptide
Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules.
Clathrin molecules have a triskelion structure composed of 3 noncovalently bound heavy chains (CLTC) and 3 light chains (CLTA, CLTB).
Pathology
CLTC/TFE3 gene fusion in pediatric renal cell carcinoma with t(X;17)(p11.2;q23) (12917640)
CLTC/ALK gene fusion in anaplastic large cell lymphoma (ALCL) and inflammatory myofibroblastic tumor (IMF)