ZBTB18
Function
Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5'-[AC]ACATCTG[GT][AC]-3' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus.
Involvement in disease
Intellectual developmental disorder, autosomal dominant 22
MRD22
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD22 patients have limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
Tissue Specificity
Lymphoid tissues, testis, heart, brain, skeletal muscle, and pancreas and, at much lower level, other tissues.
Cellular localization
- Nucleus
- Associates with condensed chromatin.
Alternative names
RP58, TAZ1, ZNF238, ZBTB18, Zinc finger and BTB domain-containing protein 18, 58 kDa repressor protein, Transcriptional repressor RP58, Translin-associated zinc finger protein 1, Zinc finger protein 238, Zinc finger protein C2H2-171, TAZ-1