PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
Gene ID: 54872, updated on 3-Nov-2024Gene type: protein coding
Also known as: EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405; RLGS1930
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- Go to complete Gene record for PIGG
- Go to Variation Viewer for PIGG variants
Summary
This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Associated conditions
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| Description | Tests |
|---|---|
| BLOOD GROUP, EMM SYSTEM | not available |
| Intellectual disability, autosomal recessive 53 | not available |
Genomic context
- Location:
- 4p16.3
- Sequence:
- Chromosome: 4; NC_000004.12 (499210..540200)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PIGG 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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