DISEASES

Disease-gene associations mined from literature

Literature associating ZBTB18 and retinitis pigmentosa 58

ZBTB18 [ENSP00000351539]

Zinc finger and BTB domain-containing protein 18; Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5'- [AC]ACATCTG[GT][AC]-3' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus; BTB domain containing

Synonyms:  ZBTB18,  ZBTB18p,  hZBTB18,  Q99592,  Q99592p ...

Linkouts:  STRING  Pharos  UniProt