DISEASES

Disease-gene associations mined from literature

Literature associating CDKN1B and nemaline myopathy 1

CDKN1B [ENSP00000228872]

Cyclin-dependent kinase inhibitor 1B (p27, Kip1); Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA. Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A- CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its phosphorylation state and/or stoichometry; Belongs to the CDI family.

Synonyms:  CDKN1B,  CDKN1Bp,  hCDKN1B,  B4DPH2,  E7ES52 ...

Linkouts:  STRING  Pharos  UniProt  OMIM