CDMT; CYLD1; CYLDI; EAC; USPL2; Turban Tumor Syndrome; Probable Ubiquitin Carboxyl-Terminal Hydrolase CYLD; Ubiquitin Specific Peptidase Like 2
(turban tumor syndrome), also known as CYLD, encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. The CYLD protein has 3 cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains, which are found in proteins that coordinate the attachment of organelles to microtubules. CYLD also has sequence homology to the catalytic domain of ubiquitin carboxy-terminal hydrolases. RT-PCR detected expression of CYLD in fetal brain, testis, and skeletal muscle, and at a lower level in adult brain, leukocytes, liver, heart, kidney, spleen, ovary, and lung. The splice variant lacking exon 7 was found in all tissues in which CYLD was expressed except kidney.