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单词 Cylindromatosis
释义

Cylindromatosis

英语百科

CYLD (gene)

Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene.

This gene encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

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更新时间:2025/6/21 10:55:11