Zinc Finger, CCHC Domain Containing 12 (ZCCHC12) is a protein encoded by the ZCCHC12 gene in humans. This protein is part of the zinc finger protein family, which is characterized by the presence of zinc finger domains that facilitate binding to nucleic acids. ZCCHC12 is also known by several aliases, including Smad-Interacting Zinc Finger Protein 1 (SIZN1) and Paraneoplastic Ma Antigen Family Member 7A (PNMA7A) .
ZCCHC12 contains a CCHC-type zinc finger domain, which is a specific motif consisting of cysteine and histidine residues that coordinate a zinc ion. This domain is crucial for the protein’s ability to bind to nucleic acids and participate in various cellular processes . The protein functions as a transcriptional coactivator in the bone morphogenetic protein (BMP) signaling pathway. It interacts with SMAD1 and associates with CBP in the transcription complex, thereby enhancing BMP-induced gene expression .
The ZCCHC12 protein plays a significant role in the regulation of gene expression, particularly in cholinergic neurons. It is involved in the BMP signaling pathway, which is essential for various developmental processes, including bone and cartilage formation . Additionally, ZCCHC12 has been implicated in cognitive functions, with variations in the gene associated with X-linked intellectual disability .
Mutations or variations in the ZCCHC12 gene have been linked to several disorders. Notably, it is associated with non-syndromic X-linked intellectual disability and adrenoleukodystrophy . Understanding the function and regulation of ZCCHC12 can provide insights into the molecular mechanisms underlying these conditions and potentially lead to the development of therapeutic strategies.
Research on ZCCHC12 has primarily focused on its role in BMP signaling and its implications in cognitive functions. The recombinant form of this protein is used in various experimental settings to study its function and interactions. Additionally, ZCCHC12 is a subject of interest in cancer research, as some zinc finger proteins have been identified as proto-oncogenes .