Rb(Phospho-Ser807/811) Rabbit Polyclonal Antibody, 20ul Serological Pipets Defects in CLCN7 are the

Defects in CLCN7 are the cause of osteopetrosis autosomal recessive type 4 (OPTB4)

A pseudogene corresponding to this gene is found on chromosome 20

which contains a conserved region of 84 amino acids called SCAN (SRE-ZBP

and have been shown to be overexpressed in a variety of human cancers

that have been divided into 3 groups on the basis of sequence homology

Rb(Phospho-Ser807/811) Rabbit Polyclonal Antibody, 20ul Serological Pipets Defects in CLCN7 are theThe protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB) bladder cancer and osteogenic sarcoma.