TUBA1B, tubulin alpha 1b, 10376

N. diseases: 96; N. variants: 0
Disease: Dysautonomia, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		0.020 AlteredExpression disease BEFREE Conserved from yeast to humans, Elongator is a protein complex implicated in multiple processes including transcription regulation, α-tubulin acetylation, and tRNA modification, and its defects have been shown to cause human diseases such as familial dysautonomia. 29332244 2018
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		0.020 Biomarker disease BEFREE In contrast to a recent report on the decrease in α-tubulin acetylation in IKAP/Elp1 downregulated cells, we were unable to observe any effect of IKAP/Elp1 deficiency on α-tubulin acetylation in the FD cerebrum and in a variety of IKAP/Elp1 downregulated cell lines. 21273291 2011