CYLD(Phospho-Ser418) Rabbit Polyclonal Antibody, 20ul Multiplex Immunoassays Mutations in this gene cause

Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)

integrin alphaVbeta3

Alternate start codons result in two isoforms of the protein

Does not have core 4 O-glycan or I-branching enzyme activity

CYLD(Phospho-Ser418) Rabbit Polyclonal Antibody, 20ul Multiplex Immunoassays Mutations in this gene causeThis gene is 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.