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
Gene: OXSM
Alternate names for this Gene: CEM1|FASN2D|KASI|KS
Gene Summary: This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.
Gene is located in Chromosome: 3
Location in Chromosome : 3p24.2
Description of this Gene: 3-oxoacyl-ACP synthase, mitochondrial
Type of Gene: protein-coding
rs1553666033 in
NGLY1;OXSM gene and
Dysmorphic features
PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
PMID 12711318 2003 Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.
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.
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 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.
rs1553666033 in
NGLY1;OXSM gene and
Muscle hypotonia
PMID 24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
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 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 11562482 2001 Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation.