Anti-CHD7 Antibody

Descrição detalhada : Chromodomain-helicase-DNA-binding protein 7 (CHD7), also known as ATP-dependent helicase CHD7, belongs to a superfamily of proteins of the ATP-dependent chromatin remodeling enzymes that have a unique combination of functional domains, including two N-terminal chromodomains, a SNF2-like ATPase/helicase domain and a DNA-binding domain. CHD7 may play an important role in early embryonic development by affecting chromatin structure and gene expression. CHD7 interacts with embryonic stem (ES) cell master regulators OCT4/POU5F1, SOX2, and NANOG and is thought to modulate ES-specific gene transcription. Together with SOX2, CHD7 has been suggested to also regulate several human disease genes. Defects in CHD7 are suggested to be the cause of CHARGE syndrome (CHARGES) and idiopathic scoliosis type 3 (IS3). Mutations in CHD7 may also result in hypogonadotropic hypogonadism (HH5). CHD7 is widely expressed in fetal and adult tissues.
Sinónimos : Chromodomain helicase DNA binding protein 7, CHD-7, IS3, KAL5, ATP-dependent helicase CHD7
Armazenamento : +2°C to +8°C
Embalagem : 1X1EA