rs398122394
This is a protein-altering variant in the ALG13 gene.
▶ClinVar annotation
ALG13-related disorder; Developmental and epileptic encephalopathy, 36 (DEE36); Hypotonia; Inborn genetic diseases; Intellectual disability; Microcephaly; Neurodevelopmental delay; Rare genetic intellectual disability; Seizure
View on ClinVar →About ALG13
The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
View all ALG13 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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