Entrez Summary: 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].
UniProt Summary: Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes. {ECO:0000250|UniProtKB:Q811H0}.
Pfam DomainsGO Terms
Pfam Domains
BTB
GO Terms
muscle organ development
muscle structure development
cellular response to DNA damage stimulus
negative regulation of transcription by RNA polymerase II
negative regulation of transcription, DNA-templated
negative regulation of nucleic acid-templated transcription
negative regulation of RNA biosynthetic process
negative regulation of RNA metabolic process
negative regulation of cellular macromolecule biosynthetic process
negative regulation of nucleobase-containing compound metabolic process
DNA binding
negative regulation of macromolecule biosynthetic process
negative regulation of cellular biosynthetic process