DISEASES

Disease-gene associations mined from literature

Literature associating CABLES1 and X-linked lissencephaly 2

CABLES1 [ENSP00000256925]

CDK5 and ABL1 enzyme substrate 1; Cyclin-dependent kinase binding protein. Enhances cyclin- dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity).

Synonyms:  CABLES1,  CABLES1p,  hCABLES1,  A0A024RC20,  A0A0G2JLG8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM