Aliases for ZCCHC12 Gene
External Ids for ZCCHC12 Gene
Previous GeneCards Identifiers for ZCCHC12 Gene
This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
GeneCards Summary for ZCCHC12 Gene
ZCCHC12 (Zinc Finger CCHC-Type Containing 12) is a Protein Coding gene. Diseases associated with ZCCHC12 include Potocki-Lupski Syndrome. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nuclear receptor transcription coactivator activity. An important paralog of this gene is ZCCHC18.
UniProtKB/Swiss-Prot Summary for ZCCHC12 Gene
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).