Zinc finger protein 630 (ZNF630)

Zinc finger protein 630 is a protein containing an N-terminal KRAB (Kruppel-associated box) domain and 13 C2H2-type zinc finger domains, encoded by the ZNF630 gene in humans. It is thought to act as a transcription factor, binding DNA in a sequence-specific manner and regulating RNA polymerase II-dependent gene transcription. ZNF630 localizes to chromosome X and shows alternatively spliced transcript variants. While little direct functional or clinical activity data is available, genetic studies have linked mutations or variants in ZNF630 to hereditary spastic paraplegia 51 and atrial septal defect 9. No drugs or established disease biomarkers target this protein at present. ZNF630 is part of the large KRAB-ZNF protein family, which generally functions to control gene expression in development and disease states, but specific roles for ZNF630 remain incompletely characterized[3][4][5][6].

Other names

BC037316dJ54B20.2FLJ20573MGC138344zinc finger protein 630, dJ54B20.2 (novel KRAB box containing C2H2 type zinc finger protein)