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DEE36

Chr XX-linked

ALG13 UDP-N-acetylglucosaminyltransferase subunit

Also known as: CDG1S, CXorf45, DEE36, EIEE36, GLT28D1, MDS031, TDRD13, YGL047W

NCBI Gene: 79868OMIM: 300884

The protein is a subunit of UDP-N-acetylglucosamine transferase that catalyzes the second sugar addition in endoplasmic reticulum N-linked glycosylation. Mutations cause developmental and epileptic encephalopathy 36, which follows X-linked inheritance.

OMIMResearchSummary from RefSeq, OMIM
X-linked1 OMIM phenotype
Clinical Summary— DEE36
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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE36?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DEE36 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients