ALG6 ALG6 alpha-1,3-glucosyltransferase
Gene ID: 29929, updated on 27-Nov-2024Gene type: protein coding
Also known as: CDG1C
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- Go to complete Gene record for ALG6
- Go to Variation Viewer for ALG6 variants
Summary
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
Associated conditions
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| Description | Tests |
|---|---|
| ALG6-congenital disorder of glycosylation 1C MedGen: C2930997OMIM: 603147GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | See labs |
Genomic context
- Location:
- 1p31.3
- Sequence:
- Chromosome: 1; NC_000001.11 (63367627..63438553)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALG6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALG6 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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