DISEASES

Disease-gene associations mined from literature

Literature associating ZCCHC12 and Potocki-Lupski syndrome

ZCCHC12 [ENSP00000308921]

Zinc finger CCHC domain-containing protein 12; Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity); Paraneoplastic Ma antigens

Synonyms:  ZCCHC12,  ZCCHC12p,  hZCCHC12,  Q6PEW1,  Q6PEW1p ...

Linkouts:  STRING  Pharos  UniProt  OMIM