External Ids for ZBTB42 Gene
Previous GeneCards Identifiers for ZBTB42 Gene
The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
GeneCards Summary for ZBTB42 Gene
ZBTB42 (Zinc Finger And BTB Domain Containing 42) is a Protein Coding gene. Diseases associated with ZBTB42 include Lethal Congenital Contracture Syndrome 6 and Lethal Congenital Contracture Syndrome. An important paralog of this gene is ENSG00000254553.
UniProtKB/Swiss-Prot for ZBTB42 Gene
Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.