CD56 Polyclonal Antibody, 50ul[BT-AP02263] Mechanical Pipette The primary defect in NCL

The primary defect in NCL disorders is thought to be associated with lysosomal storage function

Beta-adrenergic receptor kinase 1 phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations

UBTD1 (ubiquitin domain containing 1) encodes a protein that belongs to the ubiquitin family of proteins

forms laminin-5

USP50 (ubiquitin specific peptidase 50) is a 339 amino acid protein that belongs to the peptidase C19 family of proteins

CD56 Polyclonal Antibody, 50ul[BT-AP02263] Mechanical Pipette The primary defect in NCLERCC6 encodes a DNA binding protein that is important in transcription coupled excision repair. The ERCC excision repair 6, chromatin remodeling factor has ATP stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between