GMPPA GDP-mannose pyrophosphorylase A
Gene ID: 29926, updated on 3-Apr-2024Gene type: protein coding
Also known as: AAMR
- See all available tests in GTR for this gene
- Go to complete Gene record for GMPPA
- Go to Variation Viewer for GMPPA variants
Summary
This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
Associated conditions
Genomic context
- Location:
- 2q35
- Sequence:
- Chromosome: 2; NC_000002.12 (219498891..219506989)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for GMPPA variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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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