DISEASES

Disease-gene associations mined from literature

Literature associating CC2D1A and autosomal recessive non-syndromic intellectual disability

CC2D1A [ENSP00000313601]

Five prime repressor element under dual repression-binding protein 1; Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis; C2 domain containing

Synonyms:  CC2D1A,  CC2D1Ap,  hCC2D1A,  Q6P1N0,  AKI1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM