DISEASES

Disease-gene associations mined from literature

Literature associating TSHZ3 and Athabaskan brainstem dysgenesis syndrome

TSHZ3 [ENSP00000240587]

Teashirt homolog 3; Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) . Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity).

Synonyms:  TSHZ3,  TSHZ3p,  hTSHZ3,  Q63HK5,  U3KQ78 ...

Linkouts:  STRING  Pharos  UniProt  OMIM