peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform X9 - Protein

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View conserved domains detected in this protein sequence using CD-search.
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Opens the Genome Data Viewer, NCBI's genome browser, at the genomic location at which this sequence is annotated. View this sequence in the context of other features annotated at the same location and browse to other genome regions.

NGLY1 mutations cause protein aggregation in human neurons. [Cell Rep. 2023]
NGLY1 mutations cause protein aggregation in human neurons.
Manole A, Wong T, Rhee A, Novak S, Chin SM, Tsimring K, Paucar A, Williams A, Newmeyer TF, Schafer ST, et al. Cell Rep. 2023 Dec 26; 42(12):113466. Epub 2023 Nov 30.
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry. [Orphanet J Rare Dis. 2022]
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Stanclift CR, Dwight SS, Lee K, Eijkenboom QL, Wilsey M, Wilsey K, Kobayashi ES, Tong S, Bainbridge MN. Orphanet J Rare Dis. 2022 Dec 17; 17(1):440. Epub 2022 Dec 17.
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts. [J Inherit Metab Dis. 2023]
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
Budhraja R, Saraswat M, De Graef D, Ranatunga W, Ramarajan MG, Mousa J, Kozicz T, Pandey A, Morava E. J Inherit Metab Dis. 2023 Jan; 46(1):76-91. Epub 2022 Oct 4.

RefSeq genomic sequence
See the genomic reference sequence for the NGLY1 gene (NG_034108.1).
RefSeq mRNA
See reference mRNA sequence for the NGLY1 gene (XM_054347240.1).
RefSeq protein isoforms
See 22 reference sequence protein isoforms for the NGLY1 gene.

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Protein