AGTPBP1, ATP/GTP binding protein 1, 23287

N. diseases: 63; N. variants: 10
Disease: Peripheral Neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 Biomarker group BEFREE The ATP/GTP-Binding Protein 1 (AGTPBP1) gene (OMIM *606830) catalyzes deglutamylation of polyglutamylated proteins, and its deficiency manifests by cerebellar ataxia and peripheral neuropathy in mice and lower motor neuron-like disease in sheep. 30976113 2019