Nov Polyclonal Antibody, 50ul Recombinant Protein Expression Mutations in ADAMTS2 cause Ehlers-Danlos

Mutations in ADAMTS2 cause Ehlers-Danlos syndrome type VIIC

The encoded protein is involved in several cellular processes| including autophagic vesicle formation| mitochondrial quality control after oxidative damage| negative regulation of the innate antiviral immune response| lymphocyte development and proliferation| MHC II antigen presentation| adipocyte differentiation| and apoptosis

The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription

LGALS3 encodes a member of the galectin family of carbohydrate binding proteins

Mutations in TUBA1A cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly

Nov Polyclonal Antibody, 50ul Recombinant Protein Expression Mutations in ADAMTS2 cause Ehlers-DanlosProtein NOV homolog encoded by NOV is a small secreted cysteine rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development.