DISEASES

Disease-gene associations mined from literature

Literature associating CDKN1A and hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

CDKN1A [ENSP00000384849]

Cyclin-dependent kinase inhibitor 1; May be involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Binds to and inhibits cyclin- dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D- CDK4 complex. Inhibits DNA synthesis by DNA polymerase delta by competing with POLD3 for PCNA binding . Plays an important role in controlling cell cycle progression and DNA damage- induced G2 arrest .

Synonyms:  CDKN1A,  CDKN1Ap,  hCDKN1A,  A0A024RCX5,  P38936 ...

Linkouts:  STRING  Pharos  UniProt