CD55 Polyclonal Antibody, 50ul[BT-AP01917] Plasma Mutations in this gene are

Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5

KIR proteins are thought to play an important role in regulation of the immune response

disease progression

Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms

CD55 Polyclonal Antibody, 50ul[BT-AP01917] Plasma Mutations in this gene areCOL1A2 encodes the pro alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I IV, Ehlers Danlos syndrome type VIIB, recessive Ehlers Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan