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NGLY1

From SNPedia

is agene
is mentioned by
Full nameN-glycanase 1
EntrezGene55768
PheGenI55768
VariationViewer55768
ClinVarNGLY1
GeneCardsNGLY1
dbSNP55768
SADR55768
HugeNav55768
wikipediaNGLY1
googleNGLY1
gopubmedNGLY1
EVSNGLY1
HEFalMpNGLY1
MyGene2NGLY1
23andMeNGLY1
UniProtQ96IV0
EnsemblENSG00000151092
OMIM610661
# SNPs5
 Max MagnitudeChromosome positionSummary
rs201337954825,733,931
rs528583612825,720,179
rs587776982825,719,534
rs587777265825,732,374
rs587777266825,733,925


The N-glycanase 1 NGLY1 gene on chromosome 3 encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins.Wikipedia

NGLY1.org serves as a central repository of information on the disorder as well as a hub for patients. An article about variants in NGLY1 associated with rare developmental disorders has been published in the New Yorker, One of a Kind.

As a recessive condition, compound heterozygote or homozygous minor variants in the NGLY1 gene have been reported as the cause of congenital disorder of deglycosylation, a rare form of a congenital disorder of glycosylation. SNPs in SNPedia published as being pathogenic include: