Collagen I alpha 1 (Cleaved-Ala1218) Rabbit Polyclonal Antibody, 50ul Cryopreservation Mutations causing Bloom syndrome delete

Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity

or amplified in a series of tumours including anaplastic large cell lymphomas

and a canonical SH3 domain near the C-terminus

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters

A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome

Collagen I alpha 1 (Cleaved-Ala1218) Rabbit Polyclonal Antibody, 50ul Cryopreservation Mutations causing Bloom syndrome deleteThis gene encodes the pro alpha1 chains 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 VIIA Ehlers Danlos syndrome Classical type Caffey Disease and idiopathic osteoporosis. Reciprocal