Rb Polyclonal Antibody, 100ul[BT-AP07687] Recombinant Ab Production Mutations in this gene cause

Mutations in this gene cause X-linked Charcot-Marie-Tooth disease

which catalyze the reversible hydration of carbon dioxide in various biological processes

and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency

ADCK2 participates in ATP and nucleotide binding

encodes a protein that is a member of the small GTPase superfamily

Rb Polyclonal Antibody, 100ul[BT-AP07687] Recombinant Ab Production Mutations in this gene causeThe protein encoded by RB1 (RB transcriptional corepressor 1) 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 RB1 are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma.