DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Gene ID: 1798, updated on 27-Nov-2024
Gene type: protein coding
Also known as: GPT; ALG7; DGPT; G1PT; UAGT; UGAT; CDG1J; CMS13; DPAGT; CDG-Ij; CMSTA2; DPAGT2; D11S366

Summary

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital myasthenic syndrome 13 MedGen: C3553645OMIM: 614750GeneReviews: Congenital Myasthenic Syndromes Overview	See labs
DPAGT1-congenital disorder of glycosylation MedGen: C2931004OMIM: 608093GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	See labs

Genomic context

Location:: 11q23.3

Sequence:: Chromosome: 11; NC_000011.10 (119093874..119101853, complement)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DPAGT1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
DPAGT1 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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