ALG9 ALG9 alpha-1,2-mannosyltransferase
Gene ID: 79796, updated on 17-Sep-2024Gene type: protein coding
Also known as: CDG1L; DIBD1; GIKANIS; LOH11CR1J
- See all available tests in GTR for this gene
- Go to complete Gene record for ALG9
- Go to Variation Viewer for ALG9 variants
Summary
This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| ALG9 congenital disorder of glycosylation MedGen: C2931006OMIM: 608776GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | not available |
| Gillessen-Kaesbach-Nishimura syndrome | not available |
Genomic context
- Location:
- 11q23.1
- Sequence:
- Chromosome: 11; NC_000011.10 (111768025..111871581, complement)
- Total number of exons:
- 27
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALG9 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALG9 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.