CSN7A Polyclonal Antibody, 20ul Pathway and Network Analysis conotruncal heart defects and facial

conotruncal heart defects and facial dysmorphology

Different polymorphic forms

Mutations in this gene are associated with xeroderma pigmentosum complementation group A

Alternatively spliced transcript variants encoding the same isoform have been described

Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers

CSN7A Polyclonal Antibody, 20ul Pathway and Network Analysis conotruncal heart defects and facialThis gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described.