ALG11 ALG11 alpha-1,2-mannosyltransferase
Gene ID: 440138, updated on 28-Oct-2024Gene type: protein coding
Also known as: GT8; CDG1P
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- Go to complete Gene record for ALG11
- Go to Variation Viewer for ALG11 variants
Summary
This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| ALG11-congenital disorder of glycosylation MedGen: C3150913OMIM: 613661GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | See labs |
Genomic context
- Location:
- 13q14.3
- Sequence:
- Chromosome: 13; NC_000013.11 (52012398..52033600)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALG11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALG11 @ LOVD
- 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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