PIGN phosphatidylinositol glycan anchor biosynthesis class N
Gene ID: 23556, updated on 10-Oct-2024Gene type: protein coding
Also known as: MCD4; MDC4; MCAHS; PIG-N; MCAHS1
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- Go to complete Gene record for PIGN
- Go to Variation Viewer for PIGN variants
Summary
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | not available |
Genomic context
- Location:
- 18q21.33
- Sequence:
- Chromosome: 18; NC_000018.10 (62017615..62187056, complement)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PIGN 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
- PIGN @ LOVD
- 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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