The AGTPBP1 gene in neurobiology

Gene. 2022 Jan 30;809:146001. doi: 10.1016/j.gene.2021.146001. Epub 2021 Oct 9.


The function of the Agtpbp1 gene has mainly been delineated by studying Agtpbp1pcd (pcd) mutant mice, characterized by losses in cerebellar Purkinje and granule cells along with degeneration of retinal photoreceptors, mitral cells of the olfactory bulb, thalamic neurons, and alpha-motoneurons. As a result of cerebellar degeneration, cerebellar GABA and glutamate concentrations in Agtpbp1pcd mutants decreased while monoamine concentrations increased. The salient behavioral phenotypes include cerebellar ataxia, a loss in motor coordination, and cognitive deficits. Similar neuropathogical and behavioral profiles have been described in childhood-onset human subjects with biallelic variants of AGTPBP1, including cerebellar ataxia and hypotonia.

Keywords: Ataxia; Cerebellum; Dopamine; Monoamine; Motor coordination; Noradrenaline; Purkinje cell; Serotonin; Spatial learning.

MeSH terms

  • Animals
  • Cerebellum / cytology
  • Cerebellum / physiology*
  • Cricetinae
  • GTP-Binding Proteins / genetics*
  • GTP-Binding Proteins / metabolism
  • Humans
  • Mice, Mutant Strains
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / pathology*
  • Purkinje Cells / pathology
  • Purkinje Cells / physiology
  • Serine-Type D-Ala-D-Ala Carboxypeptidase / genetics*
  • Serine-Type D-Ala-D-Ala Carboxypeptidase / metabolism
  • Sheep


  • AGTPBP1 protein, human
  • Serine-Type D-Ala-D-Ala Carboxypeptidase
  • Agtpbp1 protein, mouse
  • GTP-Binding Proteins