ZBTB18 gene

zinc finger and BTB domain containing 18

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

From UniProt:

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.

From NCBI Gene:

  • Mental retardation, autosomal dominant 22

From UniProt:

Mental retardation, 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. [MIM:612337]

Cytogenetic Location: 1q44, which is the long (q) arm of chromosome 1 at position 44

Molecular Location: base pairs 244,048,939 to 244,057,476 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q44, which is the long (q) arm of chromosome 1 at position 44
  • C2H2-171
  • MRD22
  • RP58
  • TAZ-1
  • ZNF238