NGLY1 [SEP] found in taxon
an exome analysis. As of now, the clinical features of 11 patients have been reported. One cerebral visual impairment (CVI) patient also had a mutation in "NGLY1" gene. The clinical effects include neuromotor impairment, intellectual disability, and neuropathy. It has also been associated with amyotrophic lateral sclerosis and Parkinson's disease.
Details of the mechanism responsible for the pathogenesis of the "NGLY1"-deficiency remains unknown, while the intracellular accumulation of "N-"GlcNAc proteins, due to the excess action of cytosolic endo-b-N
cytoplasmic PNGase is known to reside in a domain called transglutaminase domain. NGLY1, when compared with the yeast orthologues, possesses extended N-terminal and C-terminal sequences in addition to the transglutaminase domain. Among the additional domains found in NGLY1, the PUB (PNGase- and ubiquitin-related) domain was first identified through a bioinformatics analysis. While it was initially hypothesized that it might serve as a protein-protein interaction domain, experimental evidence supporting this hypothesis is now accumulating. On the other hand, the C-terminal