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  • Human CLTCL1 wild-type allele is located in the vicinity of 22q11.2 and is approximately 112 kb in length. This allele, which encodes clathrin heavy chain 2 protein, plays a role in receptor-mediated endocytosis and cellular vesicle transport. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome.
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