DISEASES

Disease-gene associations mined from literature

Literature associating KLF4 and cerebral cavernous malformation

KLF4 [ENSP00000363804]

Krueppel-like factor 4; Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Involved in the differentiation of epithelial cells and may also function in skeletal and kidney development. Contributes to the down-regulation of p53/TP53 transcription.

Synonyms:  KLF4,  KLF4p,  hKLF4,  A0A087X0S4,  B7ZBT2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM