TSHZ3
Description
The TSHZ3 (teashirt zinc finger homeobox 3) is a protein-coding gene located on chromosome 19.
TSHZ3 (Teashirt homolog 3) is a protein involved in the development of neural circuits that control breathing, particularly the respiratory rhythm generator (RRG). Mutations in TSHZ3 can lead to breathing defects in infants. In mice, TSHZ3 is essential for the development of the RRG and its absence leads to death shortly after birth. TSHZ3 has also been linked to autism spectrum disorder (ASD) and other developmental disorders. Individuals with deletions in the region containing TSHZ3 can exhibit ASD symptoms like autistic traits, speech difficulties, intellectual disability, and renal abnormalities. Mice with heterozygous deletions of TSHZ3 show altered brain function and behavior consistent with ASD.
TSHZ3, also known as Zinc finger protein 537, acts as a transcriptional repressor during development. It forms complexes with APBB1, SET, and HDAC factors, leading to the suppression of CASP4 expression. This repression involves the recruitment of histone deacetylases HDAC1 and HDAC2, which bind to chromatin near the CASP4 gene's start site. TSHZ3 plays a role in developing neurons involved in both respiratory rhythm and airflow control, ensuring proper breathing at birth. It also contributes to the development of smooth muscle cells in the proximal ureter and modulates glutamatergic synaptic transmission and long-term synaptic potentiation.
TSHZ3 is also known as TSH3, ZNF537.
