Gene: NGLY1

Alternate names for this Gene: CDDG|CDG1V|PNG-1|PNG1|PNGase

Gene Summary: This gene 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. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p24.2

Description of this Gene: N-glycanase 1

Type of Gene: protein-coding

rs768131676 in NGLY1 gene and Movement Disorders PMID 12711318 2003 Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

PMID 24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PMID 17088551 2006 Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.

PMID 11562482 2001 Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation.

rs1135401728 in NGLY1 gene and NGLY1 deficiency PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

PMID 24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 25900930 2015 A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

PMID 25220016 2015 NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 28330790 2017 Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

rs765211108 in NGLY1 gene and Peripheral Neuropathy PMID 25220016 2015 NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

rs765211108 in NGLY1 gene and Poor school performance PMID 25220016 2015 NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.