MAN2A1 mannosidase alpha class 2A member 1
Gene ID: 4124, updated on 3-Nov-2024Gene type: protein coding
Also known as: MANA2; MANII; GOLIM7; AMan II
- See all available tests in GTR for this gene
- Go to complete Gene record for MAN2A1
- Go to Variation Viewer for MAN2A1 variants
Summary
This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. GeneReviews: Not available |
Genomic context
- Location:
- 5q21.3
- Sequence:
- Chromosome: 5; NC_000005.10 (109689927..109869625)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAN2A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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