ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Gene ID: 56052, updated on 5-Mar-2024Gene type: protein coding
Also known as: HMT1; MT-1; CDG1K; HMAT1; HMT-1; Mat-1; hMat-1
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- Go to complete Gene record for ALG1
- Go to Variation Viewer for ALG1 variants
Summary
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
Associated conditions
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Description | Tests |
---|---|
ALG1-congenital disorder of glycosylation MedGen: C2931005OMIM: 608540GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | See labs |
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. GeneReviews: Not available |
Genomic context
- Location:
- 16p13.3
- Sequence:
- Chromosome: 16; NC_000016.10 (5071843..5087379)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for ALG1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ALG1 database
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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