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. 2021 Sep 8;14:733012. doi: 10.3389/fnmol.2021.733012

TABLE 5.

NDD-causing genes encoding components of the Umf1-conjugation pathway and associated syndromes.

Gene OMIM Syndrome References Described regulator of References
UBA5 617132; 617133 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 Duan et al. (2016); Muona et al. (2016) NF-κB signaling Li et al. (2017, 2019); Xi et al. (2013)
UFC1 618076 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH Nahorski et al. (2018)

The potential implication of the gene products in the regulation of innate and/or adaptive is indicated. When available, the OMIM (Online Mendelian Inheritance in Man®) disorder number is also reported.